12-29689061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689061
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689061
    reference: chr 12
allele count: 1
allele frequency: 1.346873905664952e-5
allele num: 74246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+81A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+81A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1987A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+81A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+81A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+81A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-29689066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689066
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689066
    reference: chr 12
allele count: 1792
allele frequency: 2.143643236518494e-2
allele num: 83596
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+76T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+76T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1723T>C
  hgvsp: ENSP00000370622.2:p.Ter575GlnextTer?
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1982T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+76T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+76T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+76T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17654
  bin: 7.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 30186
  bin: 2.25e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 1.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27409
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.75e1
  variant carriers: 1753
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.5e0
  variant carriers: 2
hgvs: p.Ter575GlnextTer?
num of homozygotes: 35
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-29689068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689068
    reference: chr 12
allele count: 1803
allele frequency: 2.071556597270095e-2
allele num: 87036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1980A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+74A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+74A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+74A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+74A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+74A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1721A>G
  hgvsp: ENSP00000370622.2:p.Tyr574Cys
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 31654
  bin: 2.25e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 1.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 9.75e1
  variant carriers: 1753
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Tyr574Cys
num of homozygotes: 36
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-29689071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689071
    reference: chr 12
allele count: 1
allele frequency: 1.074298483090542e-5
allele num: 93084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+71T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1718T>C
  hgvsp: ENSP00000370622.2:p.Leu573Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1977T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+71T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+71T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+71T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+71T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu573Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-29689077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689077
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689077
    reference: chr 12
allele count: 5
allele frequency: 4.932133838383838e-5
allele num: 101376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+65G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+65G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1971G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+65G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1712G>T
  hgvsp: ENSP00000370622.2:p.Arg571Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+65G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+65G>T
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg571Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-29689078-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689078
    reference: chr 12
allele count: 2
allele frequency: 1.945790282723328e-5
allele num: 102786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1970A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1711A>C
  hgvsp: ENST00000381224.2:c.1711A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+64A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+64A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+64A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+64A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+64A>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg571Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

12-29689089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689089
    reference: chr 12
allele count: 1
allele frequency: 8.798324798958279e-6
allele num: 113658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+53T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+53T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+53T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+53T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1700T>C
  hgvsp: ENSP00000370622.2:p.Leu567Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1959T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+53T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu567Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-29689091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689091
    reference: chr 12
allele count: 3
allele frequency: 2.612375694456539e-5
allele num: 114838
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+51A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1957A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+51A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+51A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+51A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1698A>G
  hgvsp: ENST00000381224.2:c.1698A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+51A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys566Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

12-29689097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689097
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689097
    reference: chr 12
allele count: 1
allele frequency: 8.490694199157722e-6
allele num: 117776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1951G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1692G>A
  hgvsp: ENSP00000370622.2:p.Met564Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+45G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met564Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

12-29689101-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689101
    reference: chr 12
allele count: 2
allele frequency: 1.680418088020299e-5
allele num: 119018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1947A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+41A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1688A>C
  hgvsp: ENSP00000370622.2:p.Tyr563Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+41A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+41A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+41A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+41A>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr563Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

12-29689107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689107
    reference: chr 12
allele count: 37
allele frequency: 3.082459969675259e-4
allele num: 120034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+35A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1941A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+35A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+35A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1682A>G
  hgvsp: ENSP00000370622.2:p.Tyr561Cys
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+35A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+35A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5758
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr561Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-29689112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689112
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689112
    reference: chr 12
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+30A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1677A>C
  hgvsp: ENSP00000370622.2:p.Gln559His
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+30A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+30A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+30A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1936A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+30A>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln559His
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-29689118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689118
    reference: chr 12
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+24T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+24T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+24T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+24T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1671T>C
  hgvsp: ENST00000381224.2:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1930T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+24T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46021
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe557Phe
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-29689124-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689124
    reference: chr 12
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1665T>C
  hgvsp: ENST00000381224.2:c.1665T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+18T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+18T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+18T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1924T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+18T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+18T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser555Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-29689128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689128
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689128
    reference: chr 12
allele count: 7
allele frequency: 5.781110633940074e-5
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1920A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1661A>G
  hgvsp: ENSP00000370622.2:p.His554Arg
  variant of: http://identifiers.org/hgnc/24099
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His554Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

12-29689136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689136
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689136
    reference: chr 12
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+6T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+6T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1653T>C
  hgvsp: ENST00000381224.2:c.1653T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+6T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+6T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+6T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1912T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1785+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-29689139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689139
    reference: chr 12
allele count: 44
allele frequency: 3.628087997625251e-4
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+3A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1650A>G
  hgvsp: ENST00000381224.2:c.1650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+3A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+3A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1909A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+3A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+3A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 44
hgvs: c.1785+3A>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-29689140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689140
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689140
    reference: chr 12
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1649T>C
  hgvsp: ENSP00000370622.2:p.Val550Ala
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+2T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+2T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+2T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+2T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1908T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+2T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1785+2T>C
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/12-29689141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689141
    reference: chr 12
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1907G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1526+1G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1461+1G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1648G>T
  hgvsp: ENSP00000370622.2:p.Val550Leu
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1857+1G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1971+1G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1785+1G>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1785+1G>T
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

12-29689148-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689148
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689148
    reference: chr 12
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1965T>A
  hgvsp: ENST00000551659.1:c.1965T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1851T>A
  hgvsp: ENST00000552618.1:c.1851T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1520T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1641T>A
  hgvsp: ENST00000381224.2:c.1641T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1455T>A
  hgvsp: ENST00000256062.5:c.1455T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1900T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1779T>A
  hgvsp: ENST00000539277.1:c.1779T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala593Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

12-29689154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689154
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1894A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1449A>G
  hgvsp: ENST00000256062.5:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1773A>G
  hgvsp: ENST00000539277.1:c.1773A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1959A>G
  hgvsp: ENST00000551659.1:c.1959A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1514A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1635A>G
  hgvsp: ENST00000381224.2:c.1635A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1845A>G
  hgvsp: ENST00000552618.1:c.1845A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu591Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-29689154-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689154
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1845A>T
  hgvsp: ENSP00000449043.1:p.Leu615Phe
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1894A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1635A>T
  hgvsp: ENSP00000370622.2:p.Leu545Phe
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1514A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1449A>T
  hgvsp: ENSP00000256062.5:p.Leu483Phe
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1959A>T
  hgvsp: ENSP00000448112.1:p.Leu653Phe
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1773A>T
  hgvsp: ENSP00000442046.1:p.Leu591Phe
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu591Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-29689157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689157
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689157
    reference: chr 12
allele count: 1884
allele frequency: 1.552508405300283e-2
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1956G>A
  hgvsp: ENST00000551659.1:c.1956G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1842G>A
  hgvsp: ENST00000552618.1:c.1842G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1446G>A
  hgvsp: ENST00000256062.5:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1511G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1770G>A
  hgvsp: ENST00000539277.1:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1891G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1632G>A
  hgvsp: ENST00000381224.2:c.1632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 1448
genotype depth: GenotypeDepth
  all individuals: 46250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser590Ser
num of homozygotes: 45
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-29689158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689158
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689158
    reference: chr 12
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1769C>T
  hgvsp: ENSP00000442046.1:p.Ser590Leu
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1841C>T
  hgvsp: ENSP00000449043.1:p.Ser614Leu
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1890C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1955C>T
  hgvsp: ENSP00000448112.1:p.Ser652Leu
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1445C>T
  hgvsp: ENSP00000256062.5:p.Ser482Leu
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1510C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1631C>T
  hgvsp: ENSP00000370622.2:p.Ser544Leu
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser590Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-29689159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689159
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1889T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1768T>C
  hgvsp: ENSP00000442046.1:p.Ser590Pro
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1954T>C
  hgvsp: ENSP00000448112.1:p.Ser652Pro
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1840T>C
  hgvsp: ENSP00000449043.1:p.Ser614Pro
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1509T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1630T>C
  hgvsp: ENSP00000370622.2:p.Ser544Pro
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1444T>C
  hgvsp: ENSP00000256062.5:p.Ser482Pro
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser590Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-29689180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689180
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689180
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1933G>A
  hgvsp: ENSP00000448112.1:p.Asp645Asn
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1488G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1868G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1423G>A
  hgvsp: ENSP00000256062.5:p.Asp475Asn
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1747G>A
  hgvsp: ENSP00000442046.1:p.Asp583Asn
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1819G>A
  hgvsp: ENSP00000449043.1:p.Asp607Asn
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1609G>A
  hgvsp: ENSP00000370622.2:p.Asp537Asn
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp583Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-29689196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689196
    reference: chr 12
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1852T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1593T>C
  hgvsp: ENST00000381224.2:c.1593T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1917T>C
  hgvsp: ENST00000551659.1:c.1917T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1731T>C
  hgvsp: ENST00000539277.1:c.1731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1472T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1407T>C
  hgvsp: ENST00000256062.5:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1803T>C
  hgvsp: ENST00000552618.1:c.1803T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr577Tyr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-29689200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689200
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689200
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1727A>G
  hgvsp: ENSP00000442046.1:p.Lys576Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1403A>G
  hgvsp: ENSP00000256062.5:p.Lys468Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1468A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1848A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1799A>G
  hgvsp: ENSP00000449043.1:p.Lys600Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1913A>G
  hgvsp: ENSP00000448112.1:p.Lys638Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1589A>G
  hgvsp: ENSP00000370622.2:p.Lys530Arg
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys576Arg
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: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

12-29689221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689221
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689221
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1892C>G
  hgvsp: ENSP00000448112.1:p.Thr631Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1706C>G
  hgvsp: ENSP00000442046.1:p.Thr569Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1778C>G
  hgvsp: ENSP00000449043.1:p.Thr593Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1568C>G
  hgvsp: ENSP00000370622.2:p.Thr523Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1827C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1382C>G
  hgvsp: ENSP00000256062.5:p.Thr461Ser
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1447C>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr569Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

12-29689235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689235
    reference: chr 12
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1433G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1692G>A
  hgvsp: ENST00000539277.1:c.1692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1764G>A
  hgvsp: ENST00000552618.1:c.1764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1878G>A
  hgvsp: ENST00000551659.1:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1368G>A
  hgvsp: ENST00000256062.5:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1813G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1554G>A
  hgvsp: ENST00000381224.2:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys564Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-29689264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689264
    reference: chr 12
allele count: 1882
allele frequency: 1.552882155882304e-2
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-14A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-14A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 45924
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 45228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 45
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-29689272-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689272
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689273
    reference: chr 12
allele count: 8
allele frequency: 6.604474531495088e-5
allele num: 121130
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-23dupC
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-23dupC
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-23dupC
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-23dupC
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-23dupC
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-23dupC
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-23dupC
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45715
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

12-29689273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689273
    reference: chr 12
allele count: 14
allele frequency: 1.15606936416185e-4
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-23C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-23C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-23C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-23C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-23C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-23C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-23C>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45064
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-29689276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689276
    reference: chr 12
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-26C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-26C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-26C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-26C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-26C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-26C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-26C>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

12-29689277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689277
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689277
    reference: chr 12
allele count: 2
allele frequency: 1.65218253312626e-5
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-27C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-27C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-27C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-27C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-27C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-27C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-27C>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-29689277-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689277
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689277
    reference: chr 12
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-27C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-27C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-27C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-27C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-27C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-27C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-27C>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-29689278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689278
    reference: chr 12
allele count: 2
allele frequency: 1.652564780539397e-5
allele num: 121024
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-28T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-28T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-28T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-28T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-28T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-28T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-28T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

12-29689286-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689286
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689286
    reference: chr 12
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-36A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-36A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-36A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-36A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-36A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-36A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-36A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

12-29689289-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689289
    reference: chr 12
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-39A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-39A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-39A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-39A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-39A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-39A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-39A>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-29689290-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689290
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689290
    reference: chr 12
allele count: 4
allele frequency: 3.310216984723349e-5
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-40T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-40T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-40T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-40T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-40T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-40T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-40T>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5594
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-29689291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689291
    reference: chr 12
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-41T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-41T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-41T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-41T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-41T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-41T>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-41T>C
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5594
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-29689292-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689292
    reference: chr 12
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-42A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-42A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-42A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-42A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-42A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-42A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-42A>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42295
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

12-29689295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689295
    reference: chr 12
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-45G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-45G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-29689297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689297
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689297
    reference: chr 12
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-47G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-47G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-47G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-47G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-47G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-47G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-47G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-29689300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689300
    reference: chr 12
allele count: 12
allele frequency: 9.950743818100404e-5
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-50A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-50A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-50A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-50A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-50A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-50A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-50A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

12-29689300-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689300
    reference: chr 12
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-50A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-50A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-50A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-50A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-50A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-50A>C
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-50A>C
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-29689302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29689302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29689302
    reference: chr 12
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1798-52A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1677-52A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1863-52A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1418-52A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1749-52A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1539-52A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1353-52A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-29709741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709741
    reference: chr 12
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+49A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+49A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+49A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+49A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+49A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+49A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+49A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-29709742-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709742
    reference: chr 12
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+48A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+48A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+48A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+48A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+48A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+48A>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+48A>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-29709752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709752
    reference: chr 12
allele count: 3
allele frequency: 2.482580559739164e-5
allele num: 120842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+38G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+38G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+38G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+38G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+38G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+38G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+38G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-29709753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709753
    reference: chr 12
allele count: 4
allele frequency: 3.308300526019784e-5
allele num: 120908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+37C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+37C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+37C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+37C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+37C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+37C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+37C>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-29709753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709753
    reference: chr 12
allele count: 4
allele frequency: 3.308300526019784e-5
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+37C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+37C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+37C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+37C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+37C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+37C>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+37C>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9447
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-29709768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709768
    reference: chr 12
allele count: 37
allele frequency: 3.054922553584993e-4
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+22G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+22G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+22G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+22G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+22G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+22G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+22G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14085
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21138
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-29709769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709769
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709769
    reference: chr 12
allele count: 11
allele frequency: 9.080252926317875e-5
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+21C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+21C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+21C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+21C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+21C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+21C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+21C>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9413
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-29709769-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709769
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709769
    reference: chr 12
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+21C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+21C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+21C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+21C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+21C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+21C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+21C>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

12-29709771-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709771
    reference: chr 12
allele count: 5
allele frequency: 4.126842635236633e-5
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+19A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+19A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+19A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+19A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+19A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+19A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+19A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-29709778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709778
    reference: chr 12
allele count: 6
allele frequency: 4.950495049504951e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+12G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+12G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+12G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+12G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+12G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+12G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+12G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

12-29709779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709779
    reference: chr 12
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+11C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+11C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+11C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+11C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+11C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+11C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+11C>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9399
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-29709783-CACTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709783
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709779
    reference: chr 12
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1417+3_1417+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1676+3_1676+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1748+3_1748+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1797+3_1797+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1862+3_1862+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1352+3_1352+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1538+3_1538+6delAAGT
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1676+3_1676+6delAAGT
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: CACTT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-29709804-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709804
    reference: chr 12
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1338G>T
  hgvsp: ENST00000256062.5:c.1338G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1662G>T
  hgvsp: ENST00000539277.1:c.1662G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1783G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1403G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1848G>T
  hgvsp: ENST00000551659.1:c.1848G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1734G>T
  hgvsp: ENST00000552618.1:c.1734G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1524G>T
  hgvsp: ENST00000381224.2:c.1524G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu554Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-29709806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709806
    reference: chr 12
allele count: 11
allele frequency: 9.065734819014967e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1846C>T
  hgvsp: ENST00000551659.1:c.1846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1522C>T
  hgvsp: ENST00000381224.2:c.1522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1336C>T
  hgvsp: ENST00000256062.5:c.1336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1781C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1660C>T
  hgvsp: ENST00000539277.1:c.1660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1732C>T
  hgvsp: ENST00000552618.1:c.1732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1401C>T
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28658
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu554Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-29709815-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709815
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1651C>G
  hgvsp: ENSP00000442046.1:p.Leu551Val
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1837C>G
  hgvsp: ENSP00000448112.1:p.Leu613Val
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1772C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1392C>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1513C>G
  hgvsp: ENSP00000370622.2:p.Leu505Val
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1327C>G
  hgvsp: ENSP00000256062.5:p.Leu443Val
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1723C>G
  hgvsp: ENSP00000449043.1:p.Leu575Val
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu551Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-29709820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709820
    reference: chr 12
allele count: 4
allele frequency: 3.296413502109704e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1508G>A
  hgvsp: ENSP00000370622.2:p.Arg503Gln
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1387G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1322G>A
  hgvsp: ENSP00000256062.5:p.Arg441Gln
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1832G>A
  hgvsp: ENSP00000448112.1:p.Arg611Gln
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1718G>A
  hgvsp: ENSP00000449043.1:p.Arg573Gln
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1767G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1646G>A
  hgvsp: ENSP00000442046.1:p.Arg549Gln
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg549Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-29709821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709821
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1507C>T
  hgvsp: ENSP00000370622.2:p.Arg503Trp
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1766C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1645C>T
  hgvsp: ENSP00000442046.1:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1831C>T
  hgvsp: ENSP00000448112.1:p.Arg611Trp
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1386C>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1717C>T
  hgvsp: ENSP00000449043.1:p.Arg573Trp
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1321C>T
  hgvsp: ENSP00000256062.5:p.Arg441Trp
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg549Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-29709844-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709844
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709844
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1622T>A
  hgvsp: ENSP00000442046.1:p.Leu541His
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1808T>A
  hgvsp: ENSP00000448112.1:p.Leu603His
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1484T>A
  hgvsp: ENSP00000370622.2:p.Leu495His
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1743T>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1694T>A
  hgvsp: ENSP00000449043.1:p.Leu565His
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1298T>A
  hgvsp: ENSP00000256062.5:p.Leu433His
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1363T>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu541His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-29709848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709848
    reference: chr 12
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1294G>A
  hgvsp: ENSP00000256062.5:p.Ala432Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1359G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1480G>A
  hgvsp: ENSP00000370622.2:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1739G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1804G>A
  hgvsp: ENSP00000448112.1:p.Ala602Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1618G>A
  hgvsp: ENSP00000442046.1:p.Ala540Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1690G>A
  hgvsp: ENSP00000449043.1:p.Ala564Thr
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala540Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

12-29709853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709853
    reference: chr 12
allele count: 44
allele frequency: 3.625517048169938e-4
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1613A>G
  hgvsp: ENSP00000442046.1:p.Gln538Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1354A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1475A>G
  hgvsp: ENSP00000370622.2:p.Gln492Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1685A>G
  hgvsp: ENSP00000449043.1:p.Gln562Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1734A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1799A>G
  hgvsp: ENSP00000448112.1:p.Gln600Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1289A>G
  hgvsp: ENSP00000256062.5:p.Gln430Arg
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln538Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-29709861-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709861
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1281G>T
  hgvsp: ENSP00000256062.5:p.Met427Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1467G>T
  hgvsp: ENSP00000370622.2:p.Met489Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1677G>T
  hgvsp: ENSP00000449043.1:p.Met559Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1791G>T
  hgvsp: ENSP00000448112.1:p.Met597Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1726G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1346G>T
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1605G>T
  hgvsp: ENSP00000442046.1:p.Met535Ile
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met535Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

12-29709861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709861
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1677G>A
  hgvsp: ENSP00000449043.1:p.Met559Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1605G>A
  hgvsp: ENSP00000442046.1:p.Met535Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1281G>A
  hgvsp: ENSP00000256062.5:p.Met427Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1726G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1791G>A
  hgvsp: ENSP00000448112.1:p.Met597Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1467G>A
  hgvsp: ENSP00000370622.2:p.Met489Ile
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1346G>A
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28778
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met535Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-29709864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709864
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1788G>A
  hgvsp: ENST00000551659.1:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1723G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1343G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1602G>A
  hgvsp: ENST00000539277.1:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1278G>A
  hgvsp: ENST00000256062.5:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1674G>A
  hgvsp: ENST00000552618.1:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1464G>A
  hgvsp: ENST00000381224.2:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys534Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

12-29709865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709865
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709865
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1787A>G
  hgvsp: ENSP00000448112.1:p.Lys596Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1601A>G
  hgvsp: ENSP00000442046.1:p.Lys534Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1722A>G
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1673A>G
  hgvsp: ENSP00000449043.1:p.Lys558Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1463A>G
  hgvsp: ENSP00000370622.2:p.Lys488Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1277A>G
  hgvsp: ENSP00000256062.5:p.Lys426Arg
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1342A>G
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28782
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys534Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-29709869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29709869
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 29709869
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000449043
  ensembl transcript: ENST00000552618
  gene symbol: TMTC1
  hgvsc: ENST00000552618.1:c.1669G>A
  hgvsp: ENSP00000449043.1:p.Ala557Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000370622
  ensembl transcript: ENST00000381224
  gene symbol: TMTC1
  hgvsc: ENST00000381224.2:c.1459G>A
  hgvsp: ENSP00000370622.2:p.Ala487Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000442046
  ensembl transcript: ENST00000539277
  gene symbol: TMTC1
  hgvsc: ENST00000539277.1:c.1597G>A
  hgvsp: ENSP00000442046.1:p.Ala533Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000448112
  ensembl transcript: ENST00000551659
  gene symbol: TMTC1
  hgvsc: ENST00000551659.1:c.1783G>A
  hgvsp: ENSP00000448112.1:p.Ala595Thr
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000553189
  gene symbol: TMTC1
  hgvsc: ENST00000553189.1:n.1718G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133687
  ensembl transcript: ENST00000319685
  gene symbol: TMTC1
  hgvsc: ENST00000319685.8:n.1338G>A
  variant of: http://identifiers.org/hgnc/24099
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133687
  ensembl protein: ENSP00000256062
  ensembl transcript: ENST00000256062
  gene symbol: TMTC1
  hgvsc: ENST00000256062.5:c.1273G>A
  hgvsp: ENSP00000256062.5:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/24099
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala533Thr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.03179190751445e-5
allele num: 11072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 9.93421e5

QD
type: SiteQuality
SIO_000300: 3.042e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

GenotypeQuality
all individuals: 1378
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 17537
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2962
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 998
bin: 7.75e1
variant carriers: 5

East Asian
type: Population
allele count: 86
allele frequency: 1.776125567947129e-2
allele num: 4842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 66
allele frequency: 1.135972461273666e-2
allele num: 5810
num of homozygotes: 0

Latino
type: Population
allele count: 613
allele frequency: 7.371332371332372e-2
allele num: 8316
num of homozygotes: 17

Other
type: Population
allele count: 11
allele frequency: 1.571428571428572e-2
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.21483942414175e-3
allele num: 7224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 419
allele frequency: 9.477493779687854e-3
allele num: 44210
num of homozygotes: 3

South Asian
type: Population
allele count: 581
allele frequency: 4.650232111413478e-2
allele num: 12494
num of homozygotes: 15

QD
type: SiteQuality
SIO_000300: 1.864e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.084125e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 429
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28502
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 16045
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 926
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 708
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 683
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 747
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 620
allele frequency: 7.077625570776255e-2
allele num: 8760
num of homozygotes: 18

East Asian
type: Population
allele count: 86
allele frequency: 1.666020922123208e-2
allele num: 5162
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.141327623126338e-3
allele num: 7472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 421
allele frequency: 9.127569161391033e-3
allele num: 46124
num of homozygotes: 3

South Asian
type: Population
allele count: 583
allele frequency: 4.51937984496124e-2
allele num: 12900
num of homozygotes: 15

European (Finnish)
type: Population
allele count: 66
allele frequency: 1.119023397761953e-2
allele num: 5898
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.527777777777778e-2
allele num: 720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

DP
type: SiteQuality
SIO_000300: 1.116355e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

QD
type: SiteQuality
SIO_000300: 1.792e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

GenotypeQuality
all individuals: 686
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.747640685075148e-4
allele num: 5722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.171824e6

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
all individuals: 537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.486750348675035e-4
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

DP
type: SiteQuality
SIO_000300: 1.248941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55298
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.950078003120125e-4
allele num: 10256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.132e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.261497e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.039e1

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613684040664838e-5
allele num: 61970
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.67e0

DP
type: SiteQuality
SIO_000300: 1.365391e6

MQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.773e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.874297138573035e-4
allele num: 16006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 2.082e0

QD
type: SiteQuality
SIO_000300: 1.399e1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.376394e6

GenotypeQuality
all individuals: 1740
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.146281499692685e-5
allele num: 16270
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.406736e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.634e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.129e0

GenotypeQuality
all individuals: 624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1144
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
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: 16360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057636447026449e-5
allele num: 65410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.634e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.419838e6

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.146057212047828e-4
allele num: 66070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.641310089804543e-4
allele num: 11358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.4335e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.617e1

GenotypeQuality
all individuals: 2206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5801
bin: 6.75e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6558
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -7.16e-1

BaseQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 904
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Latino
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allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16484
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66488
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African
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.327746741154562e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11502
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.3e-1

QD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

BaseQRankSum
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SIO_000300: 6.42e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
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allele frequency: 9.63948332369385e-5
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16496
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Latino
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allele frequency: 0.0e0
allele num: 11508
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.009279557944684e-5
allele num: 66598
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
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DP
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
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SIO_000300: 4.11e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
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allele frequency: 9.617234083477592e-5
allele num: 10398
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11550
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.684e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
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SIO_000300: -5.952e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.44612e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 43
allele frequency: 6.449097126402304e-4
allele num: 66676
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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South Asian
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allele num: 16504
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e0

QD
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ClippingRankSum
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SIO_000300: -5.35e-1

InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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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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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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

East Asian
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African
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allele num: 10402
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Latino
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele count: 0
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Other
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.448862e6

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46323
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
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: 10404
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: 11566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 2.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.448862e6

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 9.75e1
variant carriers: 1838

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 657
allele frequency: 5.682407887908666e-2
allele num: 11562
num of homozygotes: 25

Other
type: Population
allele count: 11
allele frequency: 1.211453744493392e-2
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.633672881030175e-3
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 439
allele frequency: 6.579933451242543e-3
allele num: 66718
num of homozygotes: 3

East Asian
type: Population
allele count: 94
allele frequency: 1.08821486455198e-2
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 70
allele frequency: 1.059001512859304e-2
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 596
allele frequency: 3.609933373712901e-2
allele num: 16510
num of homozygotes: 17

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 1.339e0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

DP
type: SiteQuality
SIO_000300: 1.633763e6

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45619
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.651e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

FS
type: SiteQuality
SIO_000300: 1.324e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.567082e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 11572
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.567121e6

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

FS
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45640
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 11574
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: 8646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.486e0

VQSLOD
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.567277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 1.567632e6

FS
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2018
bin: 7.75e1
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: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

DP
type: SiteQuality
SIO_000300: 1.567402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

FS
type: SiteQuality
SIO_000300: 2.236e0

QD
type: SiteQuality
SIO_000300: 1.53e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.118e0

DP
type: SiteQuality
SIO_000300: 1.567291e6

FS
type: SiteQuality
SIO_000300: 1.142e1

QD
type: SiteQuality
SIO_000300: 1.14e1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.373e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 1.567113e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.802e0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 9.75e1
variant carriers: 1835

South Asian
type: Population
allele count: 595
allele frequency: 3.606935014548981e-2
allele num: 16496
num of homozygotes: 17

East Asian
type: Population
allele count: 94
allele frequency: 1.089728727104104e-2
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 437
allele frequency: 6.557229458015726e-3
allele num: 66644
num of homozygotes: 3

Latino
type: Population
allele count: 658
allele frequency: 5.700918385028591e-2
allele num: 11542
num of homozygotes: 25

European (Finnish)
type: Population
allele count: 70
allele frequency: 1.059642749016046e-2
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.638712165027954e-3
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.214128035320088e-2
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.12e-2

QD
type: SiteQuality
SIO_000300: 1.382e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.558247e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45157
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.751543209876543e-4
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 1.473388e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 1.308e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.48594004183128e-4
allele num: 8606
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: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.727975270479134e-4
allele num: 10352
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.691e0

FS
type: SiteQuality
SIO_000300: 1.005e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.473861e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

GenotypeQuality
all individuals: 44877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 5697
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variant carriers: 0

GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 724
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.599e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.471652e6

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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: 10362
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.47093e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 44777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 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: 6604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.47093e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.509e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

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

GenotypeQuality
all individuals: 1502
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44703
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

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

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.469983e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

FS
type: SiteQuality
SIO_000300: 6.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43707
bin: 6.25e1
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: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
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: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

QD
type: SiteQuality
SIO_000300: 1.625e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.465053e6

GenotypeQuality
all individuals: 295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 4.75e1
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GenotypeQuality
all individuals: 1676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 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: 11482
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e0

QD
type: SiteQuality
SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: -9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 1.462816e6

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 43086
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 1507
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GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
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: 4
allele frequency: 6.017028189777069e-5
allele num: 66478
num of homozygotes: 0

East Asian
type: Population
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: 6596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.462959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

QD
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 306
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variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 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: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
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: 16484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 1.461976e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

QD
type: SiteQuality
SIO_000300: 1.93e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 1.461267e6

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 796
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variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 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: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

DP
type: SiteQuality
SIO_000300: 1.46324e6

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 1667
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1025
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 736
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variant carriers: 0

GenotypeQuality
all individuals: 41049
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.792e0

DP
type: SiteQuality
SIO_000300: 1.464666e6

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

GenotypeQuality
all individuals: 1196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
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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: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 635
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variant carriers: 0

GenotypeQuality
all individuals: 824
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variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 9.68054211035818e-4
allele num: 10330
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
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.467308e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.099e0

QD
type: SiteQuality
SIO_000300: 1.403e1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 635
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2166
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variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 3.75e1
variant carriers: 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: 10330
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: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.467308e6

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 834
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5535
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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
all individuals: 63
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GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 2403
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variant carriers: 1

GenotypeQuality
all individuals: 639
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GenotypeQuality
all individuals: 1479
bin: 5.25e1
variant carriers: 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: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
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: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.274999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.739e1

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.471507e6

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.75e1
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GenotypeQuality
all individuals: 1999
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variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 889
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variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 3.634e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.025e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.059386e6

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.25e1
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GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.382e0

VQSLOD
type: SiteQuality
SIO_000300: -2.692e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 9.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 6.732e0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

DP
type: SiteQuality
SIO_000300: 2.059702e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

GenotypeQuality
all individuals: 9449
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 233
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GenotypeQuality
all individuals: 198
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GenotypeQuality
all individuals: 1987
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GenotypeQuality
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GenotypeQuality
all individuals: 4274
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GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

FS
type: SiteQuality
SIO_000300: 4.031e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.651e0

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 2.069839e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9447
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006524157421605e-5
allele num: 66522
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: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.072762e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
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: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.01304831484321e-5
allele num: 66522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 2.072762e6

QD
type: SiteQuality
SIO_000300: 1.452e1

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

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9443
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 8718
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 36
allele frequency: 3.109882515549413e-3
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
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: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 2.085285e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.978e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8741
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005104338687885e-5
allele num: 66610
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.263613107564868e-4
allele num: 16418
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 10404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 2.08503e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.329e1

GenotypeQuality
all individuals: 4265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9413
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 2.08503e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

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

GenotypeQuality
all individuals: 3085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9404
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3108
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
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: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

FS
type: SiteQuality
SIO_000300: 1.227e0

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 2.085365e6

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 3103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1988
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9403
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502881844380403e-5
allele num: 66624
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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 2.087411e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
all individuals: 1337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.189e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 2.087347e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

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

GenotypeQuality
all individuals: 1332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 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: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 2.088222e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 5.806e1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8780
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9390
bin: 9.75e1
variant carriers: 1

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: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 8.79e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.089705e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 9393
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.663435909861885e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 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: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 1.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.737e0

DP
type: SiteQuality
SIO_000300: 2.09001e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1985
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variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

FS
type: SiteQuality
SIO_000300: 2.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.089765e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.413e0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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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: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8779
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.090167e6

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 3.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8784
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.649e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 2.047e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.206e0

DP
type: SiteQuality
SIO_000300: 2.08994e6

QD
type: SiteQuality
SIO_000300: 1.168e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9376
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variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 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: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.606e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -6.116e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 2.090033e6

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.798e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9376
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.181e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.925e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.090108e6

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 44

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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 42
allele frequency: 4.865616311399444e-3
allele num: 8632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.092237e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 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
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: -3.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

DP
type: SiteQuality
SIO_000300: 2.089552e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 2.0885e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 2.089552e6

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9351
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 2.089539e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.381e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 9.039e0

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

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

GenotypeQuality
all individuals: 8787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.089527e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

FS
type: SiteQuality
SIO_000300: 1.616e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2