12-96330204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330204
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330204
    reference: chr 12
allele count: 1
allele frequency: 8.738050715646353e-6
allele num: 114442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+47T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+47T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+47T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+47T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+47T>C
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-96330210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330210
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330210
    reference: chr 12
allele count: 1
allele frequency: 8.742940075888719e-6
allele num: 114378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+41C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+41C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+41C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+41C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+41C>T
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15708
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

12-96330217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330217
    reference: chr 12
allele count: 1
allele frequency: 8.700645587902622e-6
allele num: 114934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+34G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+34G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+34G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+34G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+34G>A
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-96330219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330219
    reference: chr 12
allele count: 1
allele frequency: 8.685984295740394e-6
allele num: 115128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+32T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+32T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+32T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+32T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+32T>C
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-96330222-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330222
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330222
    reference: chr 12
allele count: 1
allele frequency: 8.679500755116566e-6
allele num: 115214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+29G>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+29G>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+29G>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+29G>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+29G>T
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-96330226-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330226
    reference: chr 12
allele count: 3
allele frequency: 2.595874290461027e-5
allele num: 115568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+25T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+25T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+25T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+25T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+25T>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23188
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-96330236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330236
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330236
    reference: chr 12
allele count: 1
allele frequency: 8.565163765931204e-6
allele num: 116752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+15A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+15A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+15A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+15A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+15A>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-96330237-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330237
    reference: chr 12
allele count: 2
allele frequency: 1.710542070782231e-5
allele num: 116922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+14A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+14A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+14A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+14A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+14A>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-96330241-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330241
    reference: chr 12
allele count: 1
allele frequency: 8.517887563884156e-6
allele num: 117400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+10A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+10A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+10A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+10A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+10A>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-96330243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330243
    reference: chr 12
allele count: 2
allele frequency: 1.701374710766299e-5
allele num: 117552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37+8G>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37+8G>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37+8G>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154+8G>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222+8G>C
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: c.37+8G>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-96330251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330251
    reference: chr 12
allele count: 1
allele frequency: 8.456087537418188e-6
allele num: 118258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.37G>C
  hgvsp: ENSP00000345470.3:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.37G>C
  hgvsp: ENSP00000447966.1:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-154G>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.222G>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.37G>C
  hgvsp: ENSP00000448644.1:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly13Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-96330254-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330253
    reference: chr 12
allele count: 1
allele frequency: 8.439388313135065e-6
allele num: 118492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-158delT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.218delT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.33delT
  hgvsp: ENSP00000447966.1:p.Gly12GlufsTer3
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.33delT
  hgvsp: ENSP00000345470.3:p.Gly12GlufsTer4
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.33delT
  hgvsp: ENSP00000448644.1:p.Gly12GlufsTer57
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly12GlufsTer4
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CA
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-96330261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330261
    reference: chr 12
allele count: 1
allele frequency: 8.407317729351627e-6
allele num: 118944
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.27G>T
  hgvsp: ENST00000344280.3:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.27G>T
  hgvsp: ENST00000546386.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.212G>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.27G>T
  hgvsp: ENST00000546803.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-164G>T
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu9Leu
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: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-96330264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330264
    reference: chr 12
allele count: 105
allele frequency: 8.815972863595909e-4
allele num: 119102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.209A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.24A>G
  hgvsp: ENST00000344280.3:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.24A>G
  hgvsp: ENST00000546386.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.24A>G
  hgvsp: ENST00000546803.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-167A>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr8Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-96330274-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330274
    reference: chr 12
allele count: 2
allele frequency: 1.675294432996599e-5
allele num: 119382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.199T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.14T>G
  hgvsp: ENSP00000447966.1:p.Leu5Ter
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.14T>G
  hgvsp: ENSP00000345470.3:p.Leu5Ter
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.14T>G
  hgvsp: ENSP00000448644.1:p.Leu5Ter
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-177T>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu5Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-96330291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330291
    reference: chr 12
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.182G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-194G>A
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5236
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-96330295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330295
    reference: chr 12
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.178G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-8G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-198G>A
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

12-96330306-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330306
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330306
    reference: chr 12
allele count: 2
allele frequency: 1.930651015522434e-5
allele num: 103592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-5A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-5A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-5A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-5A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-5A>T
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 2
hgvs: c.-14-5A>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-96330311-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330310
    reference: chr 12
allele count: 49038
allele frequency: 4.431091191672389e-1
allele num: 110668
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-11delT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-11delT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-11delT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-11delT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-11delT
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.75e1
  variant carriers: 1565
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 4782
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 806
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 3267
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.75e1
  variant carriers: 6394
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.25e1
  variant carriers: 7041
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.25e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 775
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 1117
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 1.25e1
  variant carriers: 3230
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 9.75e1
  variant carriers: 827
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 2309
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 1.75e1
  variant carriers: 6128
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 832
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.25e1
  variant carriers: 937
genotype quality: GenotypeQuality
  all individuals: 30413
  bin: 9.75e1
  variant carriers: 29475
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 5.25e1
  variant carriers: 656
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 478
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 482
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 800
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 2.5e0
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 753
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 242
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 836
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 522
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.25e1
  variant carriers: 167
num of homozygotes: 10553
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: GA
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

12-96330311-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330309
    reference: chr 12
allele count: 18
allele frequency: 1.626486427874363e-4
allele num: 110668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-12_-204-11delTT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-12_-14-11delTT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-12_-14-11delTT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-12_172-11delTT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-12_-14-11delTT
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: GAA
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-96330311-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330312
    reference: chr 12
allele count: 97
allele frequency: 8.764954639100734e-4
allele num: 110668
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-11dupT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-11dupT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-11dupT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-11dupT
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-11dupT
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30413
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.25e1
  variant carriers: 12
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-96330313-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330313
    reference: chr 12
allele count: 1
allele frequency: 2.743785326236075e-5
allele num: 36446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-12T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-12T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-12T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-12T>C
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-12T>C
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23975
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-96330319-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330319
    reference: chr 12
allele count: 1
allele frequency: 8.726003490401396e-6
allele num: 114600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-18T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-18T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-18T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-18T>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-18T>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

12-96330321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330321
    reference: chr 12
allele count: 1
allele frequency: 8.806227764274895e-6
allele num: 113556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-20A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-20A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-20A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-20A>G
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-20A>G
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

12-96330323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330323
    reference: chr 12
allele count: 6
allele frequency: 5.289605924358635e-5
allele num: 113430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-22G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-22G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-22G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-22G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-22G>A
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-96330324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330324
    reference: chr 12
allele count: 8
allele frequency: 7.066139061616732e-5
allele num: 113216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-23C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-23C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-23C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-23C>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-23C>T
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15167
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 16867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-96330330-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330330
    reference: chr 12
allele count: 2
allele frequency: 1.812119454914468e-5
allele num: 110368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-29A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-29A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-29A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-29A>T
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-29A>T
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9463
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-96330338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96330338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96330338
    reference: chr 12
allele count: 5
allele frequency: 4.74410307987172e-5
allele num: 105394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000448644
  ensembl transcript: ENST00000546386
  gene symbol: CCDC38
  hgvsc: ENST00000546386.1:c.-14-37G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl transcript: ENST00000549752
  gene symbol: CCDC38
  hgvsc: ENST00000549752.1:n.172-37G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000345470
  ensembl transcript: ENST00000344280
  gene symbol: CCDC38
  hgvsc: ENST00000344280.3:c.-14-37G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000449001
  ensembl transcript: ENST00000546947
  gene symbol: CCDC38
  hgvsc: ENST00000546947.1:c.-204-37G>A
  variant of: http://identifiers.org/hgnc/26843
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165972
  ensembl protein: ENSP00000447966
  ensembl transcript: ENST00000546803
  gene symbol: CCDC38
  hgvsc: ENST00000546803.1:c.-14-37G>A
  variant of: http://identifiers.org/hgnc/26843
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-96337161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337161
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337161
    reference: chr 12
allele count: 1
allele frequency: 1.680672268907563e-4
allele num: 5950
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 2.387774594078319e-4
  allele num: 4188
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 102
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

12-96337164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337164
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337164
    reference: chr 12
allele count: 2535
allele frequency: 3.190284419833879e-1
allele num: 7946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.-13G>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 582
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.5e0
  variant carriers: 317
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.5e0
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 2.5e0
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.5e0
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 6.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 1678
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 135
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  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 45
num of homozygotes: 364
population: Latino
  type: Population
  allele count: 13
  allele frequency: 1.96969696969697e-1
  allele num: 66
  num of homozygotes: 2
population: Other
  type: Population
  allele count: 25
  allele frequency: 2.840909090909091e-1
  allele num: 88
  num of homozygotes: 3
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

12-96337167-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337167
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337167
    reference: chr 12
allele count: 1
allele frequency: 1.217433649866082e-4
allele num: 8214
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.-10G>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48
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genotype quality: GenotypeQuality
  all individuals: 1591
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genotype quality: GenotypeQuality
  all individuals: 233
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genotype quality: GenotypeQuality
  all individuals: 1382
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genotype quality: GenotypeQuality
  all individuals: 352
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genotype quality: GenotypeQuality
  all individuals: 585
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genotype quality: GenotypeQuality
  all individuals: 5423
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 113
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genotype quality: GenotypeQuality
  all individuals: 108
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genotype quality: GenotypeQuality
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5856
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1896
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 90
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

12-96337168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337168
    reference: chr 12
allele count: 1
allele frequency: 1.211240310077519e-4
allele num: 8256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.-9C>T
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 577
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5486
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1370
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 125
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 327
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genotype quality: GenotypeQuality
  all individuals: 322
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 588
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genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1912
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 5.617977528089887e-3
  allele num: 178
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5880
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-96337179-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337179
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337179
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 8876
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.3G>T
  hgvsp: ENSP00000266736.2:p.Met1?
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 200
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-96337183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337183
    reference: chr 12
allele count: 6548
allele frequency: 6.346191122310525e-1
allele num: 10318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.7A>G
  hgvsp: ENSP00000266736.2:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 629
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 736
genotype depth: GenotypeDepth
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  variant carriers: 27
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.25e1
  variant carriers: 866
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 645
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 62
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 170
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 176
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  variant carriers: 172
hgvs: p.Ser3Gly
num of homozygotes: 2073
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4357
  allele frequency: 6.215406562054209e-1
  allele num: 7010
  num of homozygotes: 1355
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-96337185-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337185
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10156
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.9C>G
  hgvsp: ENSP00000266736.2:p.Ser3Arg
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 114
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ser3Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 134
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-96337188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337188
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.12C>T
  hgvsp: ENST00000266736.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 389
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  variant carriers: 0
hgvs: p.Gly4Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6994
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-96337225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337225
    reference: chr 12
allele count: 3201
allele frequency: 2.976013387876534e-1
allele num: 10756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.49C>T
  hgvsp: ENST00000266736.2:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 355
genotype depth: GenotypeDepth
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  variant carriers: 273
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 398
genotype depth: GenotypeDepth
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  variant carriers: 34
genotype depth: GenotypeDepth
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  variant carriers: 156
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 212
genotype depth: GenotypeDepth
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  variant carriers: 302
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 110
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 207
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 295
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 398
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2383
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 63
hgvs: p.Leu17Leu
num of homozygotes: 493
population: East Asian
  type: Population
  allele count: 68
  allele frequency: 4.533333333333333e-1
  allele num: 150
  num of homozygotes: 12
population: Latino
  type: Population
  allele count: 21
  allele frequency: 2.058823529411765e-1
  allele num: 102
  num of homozygotes: 3
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-96337239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337239
    reference: chr 12
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.63C>T
  hgvsp: ENST00000266736.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg21Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 142
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 324
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-96337240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337240
    reference: chr 12
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.64G>A
  hgvsp: ENSP00000266736.2:p.Gly22Ser
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly22Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 90
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 320
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-96337279-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337279
    reference: chr 12
allele count: 4
allele frequency: 4.68055230517201e-4
allele num: 8546
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.103G>T
  hgvsp: ENSP00000266736.2:p.Ala35Ser
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala35Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS

12-96337365-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96337365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96337365
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 904
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.137+52T>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.16+52T>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 510
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-96346461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346461
    reference: chr 12
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-166-34C>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.138-34C>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.17-34C>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-96346463-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346463
    reference: chr 12
allele count: 1
allele frequency: 8.472565831836514e-6
allele num: 118028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-166-32A>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.138-32A>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.17-32A>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

12-96346467-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346467
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346467
    reference: chr 12
allele count: 4
allele frequency: 3.382091823793016e-5
allele num: 118270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.138-28T>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-166-28T>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.17-28T>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14292
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23049
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-96346471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346471
    reference: chr 12
allele count: 1
allele frequency: 8.422896802668375e-6
allele num: 118724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.17-24A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-166-24A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.138-24A>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-96346489-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346489
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346489
    reference: chr 12
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.138-6C>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-166-6C>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.17-6C>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
hgvs: c.138-6C>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

12-96346491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346491
    reference: chr 12
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.138-4T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.17-4T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-166-4T>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9158
  bin: 9.75e1
  variant carriers: 1
hgvs: c.138-4T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-96346497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346497
    reference: chr 12
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.19A>G
  hgvsp: ENSP00000448632.1:p.Asp7Gly
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.140A>G
  hgvsp: ENSP00000266736.2:p.Asp47Gly
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-164A>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28790
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp47Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-96346505-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346505
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346505
    reference: chr 12
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-156A>T
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.148A>T
  hgvsp: ENSP00000266736.2:p.Ile50Leu
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.27A>T
  hgvsp: ENSP00000448632.1:p.Ile10Leu
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28903
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7205
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 441
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 9160
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile50Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

12-96346511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346511
    reference: chr 12
allele count: 3
allele frequency: 2.49003984063745e-5
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.154G>A
  hgvsp: ENSP00000266736.2:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.33G>A
  hgvsp: ENSP00000448632.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala52Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

12-96346513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346513
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346513
    reference: chr 12
allele count: 4
allele frequency: 3.319171534784917e-5
allele num: 120512
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.156T>C
  hgvsp: ENST00000266736.2:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-148T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.35T>C
  hgvsp: ENST00000548310.1:c.35T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9164
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala52Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-96346514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346514
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346514
    reference: chr 12
allele count: 2
allele frequency: 1.659392994042779e-5
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-147A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.157A>G
  hgvsp: ENSP00000266736.2:p.Ile53Val
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.36A>G
  hgvsp: ENSP00000448632.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9164
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile53Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-96346517-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346517
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346517
    reference: chr 12
allele count: 5
allele frequency: 4.14765657403567e-5
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-144G>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.39G>C
  hgvsp: ENSP00000448632.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.160G>C
  hgvsp: ENSP00000266736.2:p.Gly54Arg
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9167
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Gly54Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-96346528-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346527
    reference: chr 12
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.172delG
  hgvsp: ENSP00000266736.2:p.Val58LeufsTer14
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.51delG
  hgvsp: ENSP00000448632.1:p.Val18LeufsTer14
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-132delG
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 25304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val58LeufsTer14
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-96346529-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346528
    reference: chr 12
allele count: 2
allele frequency: 1.658484808279156e-5
allele num: 120592
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.174delT
  hgvsp: ENSP00000266736.2:p.Ile59PhefsTer13
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.53delT
  hgvsp: ENSP00000448632.1:p.Ile19PhefsTer13
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-130delT
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9167
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile59PhefsTer13
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: GT
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

12-96346543-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346543
    reference: chr 12
allele count: 13
allele frequency: 1.077532616083418e-4
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.186G>T
  hgvsp: ENSP00000266736.2:p.Gln62His
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.65G>T
  hgvsp: ENSP00000448632.1:p.Gln22His
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-118G>T
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln62His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

12-96346552-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346552
    reference: chr 12
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.195A>G
  hgvsp: ENST00000266736.2:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.74A>G
  hgvsp: ENST00000548310.1:c.74A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly65Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

12-96346568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346568
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346568
    reference: chr 12
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-93A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.90A>G
  hgvsp: ENSP00000448632.1:p.Ile31Val
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.211A>G
  hgvsp: ENSP00000266736.2:p.Ile71Val
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile71Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-96346577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346577
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346577
    reference: chr 12
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-84T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.99T>C
  hgvsp: ENSP00000448632.1:p.Cys34Arg
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.220T>C
  hgvsp: ENSP00000266736.2:p.Cys74Arg
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys74Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-96346580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346580
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346580
    reference: chr 12
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.102T>C
  hgvsp: ENSP00000448632.1:p.Ser35Pro
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-81T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.223T>C
  hgvsp: ENSP00000266736.2:p.Ser75Pro
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 28852
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 53
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genotype quality: GenotypeQuality
  all individuals: 1573
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser75Pro
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-96346590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346590
    reference: chr 12
allele count: 2
allele frequency: 1.659255326209597e-5
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.112G>A
  hgvsp: ENSP00000448632.1:p.Cys38Tyr
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.233G>A
  hgvsp: ENSP00000266736.2:p.Cys78Tyr
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-71G>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 488
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28527
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2000
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys78Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

12-96346594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346594
    reference: chr 12
allele count: 29473
allele frequency: 2.445121040667673e-1
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.237T>C
  hgvsp: ENST00000266736.2:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.116T>C
  hgvsp: ENST00000548310.1:c.116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-67T>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.75e1
  variant carriers: 1282
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 8.25e1
  variant carriers: 1062
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.25e1
  variant carriers: 822
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 5.75e1
  variant carriers: 2587
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 1828
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.25e1
  variant carriers: 615
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 1892
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 2.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 9.75e1
  variant carriers: 2582
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 4.75e1
  variant carriers: 2356
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 6.25e1
  variant carriers: 2510
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.25e1
  variant carriers: 2644
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 8.75e1
  variant carriers: 815
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.75e1
  variant carriers: 1341
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 6.75e1
  variant carriers: 2139
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 29309
  bin: 9.75e1
  variant carriers: 25031
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 8.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 19271
  bin: 6.25e1
  variant carriers: 20
hgvs: p.Ile79Ile
num of homozygotes: 4115
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-96346600-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346600
    reference: chr 12
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.243A>C
  hgvsp: ENST00000266736.2:c.243A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.122A>C
  hgvsp: ENST00000548310.1:c.122A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-61A>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
hgvs: c.243A>C
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-96346627-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346627
    reference: chr 12
allele count: 1
allele frequency: 8.407317729351627e-6
allele num: 118944
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.244+26T>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.123+26T>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-60+26T>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25069
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7897
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genotype quality: GenotypeQuality
  all individuals: 174
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

12-96346630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346630
    reference: chr 12
allele count: 1
allele frequency: 8.42133629764371e-6
allele num: 118746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.244+29A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.123+29A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-60+29A>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2653
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 251
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-96346636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346636
    reference: chr 12
allele count: 1
allele frequency: 8.43810648890389e-6
allele num: 118510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.123+35A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-60+35A>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.244+35A>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

12-96346646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346646
    reference: chr 12
allele count: 1
allele frequency: 8.490117503226245e-6
allele num: 117784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.123+45G>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.244+45G>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-60+45G>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-96346649-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96346649
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96346649
    reference: chr 12
allele count: 4
allele frequency: 3.403444285617044e-5
allele num: 117528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.123+48G>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.244+48G>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-60+48G>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14859
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

12-96348643-GCTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348639
    reference: chr 12
allele count: 1
allele frequency: 8.37548996616302e-6
allele num: 119396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-43_245-40delCTCT
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1817_124-1814delCTCT
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-43_-59-40delCTCT
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: GCTCT
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

12-96348649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348649
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348649
    reference: chr 12
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-40T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1814T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-40T>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-96348654-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348654
    reference: chr 12
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1809C>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-35C>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-35C>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-96348654-CTTAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348650
    reference: chr 12
allele count: 2
allele frequency: 1.671067143477825e-5
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1806_124-1803delAATT
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-32_245-29delAATT
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-32_-59-29delAATT
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CTTAA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-96348656-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348656
    reference: chr 12
allele count: 5
allele frequency: 4.174110497053078e-5
allele num: 119786
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-33T>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-33T>G
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1807T>G
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13803
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11168
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3562
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genotype quality: GenotypeQuality
  all individuals: 2277
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genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3231
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 7135
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-96348670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348670
    reference: chr 12
allele count: 3
allele frequency: 2.489337338400518e-5
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-19C>T
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-19C>T
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1793C>T
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24777
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-96348671-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348671
    reference: chr 12
allele count: 3
allele frequency: 2.488222413907504e-5
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-18T>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1792T>A
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-18T>A
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-96348679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96348679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 96348679
    reference: chr 12
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448632
  ensembl transcript: ENST00000548310
  gene symbol: AMDHD1
  hgvsc: ENST00000548310.1:c.124-1784T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000448918
  ensembl transcript: ENST00000553023
  gene symbol: AMDHD1
  hgvsc: ENST00000553023.1:c.-59-10T>C
  variant of: http://identifiers.org/hgnc/28577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139344
  ensembl protein: ENSP00000266736
  ensembl transcript: ENST00000266736
  gene symbol: AMDHD1
  hgvsc: ENST00000266736.2:c.245-10T>C
  variant of: http://identifiers.org/hgnc/28577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 3998
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603797793174237e-5
allele num: 62352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.610947e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.102494083378845e-5
allele num: 10986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.389e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.162e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.629722e6

QD
type: SiteQuality
SIO_000300: 6.89e0

VQSLOD
type: SiteQuality
SIO_000300: -2.481e0

GenotypeQuality
all individuals: 1809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595710729558946e-5
allele num: 62668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.667616e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 2066
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59291471534614e-5
allele num: 62778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -4.787e-1

FS
type: SiteQuality
SIO_000300: 8.926e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.994e1

QD
type: SiteQuality
SIO_000300: 1.258e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.679527e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.679e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

GenotypeQuality
all individuals: 6707
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2958
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 1.695855e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.623921085080148e-4
allele num: 6488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 1.717337e6

QD
type: SiteQuality
SIO_000300: 1.522e1

FS
type: SiteQuality
SIO_000300: 2.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e0

GenotypeQuality
all individuals: 876
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565337173627199e-5
allele num: 63884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 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: 15838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 1.768291e6

QD
type: SiteQuality
SIO_000300: 1.086e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e0

FS
type: SiteQuality
SIO_000300: 3.235e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -8.103e-1

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38078
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5625e-5
allele num: 64000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.534683855125844e-4
allele num: 6516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.39e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.773032e6

QD
type: SiteQuality
SIO_000300: 1.436e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.702e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 1184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.291682395872656e-5
allele num: 15894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.055e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 1.786618e6

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 39321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 619
bin: 2.75e1
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GenotypeQuality
all individuals: 640
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.10481867858917e-5
allele num: 64416
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.791347e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 2.075e1

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

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

GenotypeQuality
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variant carriers: 0

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
all individuals: 644
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.245316012990258e-5
allele num: 16012
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

DP
type: SiteQuality
SIO_000300: 1.80453e6

FS
type: SiteQuality
SIO_000300: 5.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.926e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 1188
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537846399901578e-5
allele num: 65026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.809786e6

QD
type: SiteQuality
SIO_000300: 1.995e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeQuality
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bin: 8.75e1
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: 7215
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 8.48e0

VQSLOD
type: SiteQuality
SIO_000300: -1.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.817786e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65416
num of homozygotes: 0

African
type: Population
allele count: 103
allele frequency: 1.021825396825397e-2
allele num: 10080
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.752541184717841e-4
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.822761e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748863238894718e-4
allele num: 11436
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: 65576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.824087e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.077e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527463799107961e-5
allele num: 65468
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.029e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

DP
type: SiteQuality
SIO_000300: 1.815881e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
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East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.675e0

FS
type: SiteQuality
SIO_000300: 1.1049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

DP
type: SiteQuality
SIO_000300: 1.817448e6

GenotypeQuality
all individuals: 3537
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variant carriers: 0

GenotypeQuality
all individuals: 1438
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GenotypeQuality
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GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 4192
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GenotypeQuality
all individuals: 570
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GenotypeQuality
all individuals: 3761
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.49662575614532e-5
allele num: 57198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15050
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.457e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.181e0

DP
type: SiteQuality
SIO_000300: 2.002285e6

GenotypeQuality
all individuals: 656
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variant carriers: 233

GenotypeQuality
all individuals: 895
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GenotypeQuality
all individuals: 961
bin: 9.25e1
variant carriers: 766

GenotypeQuality
all individuals: 1228
bin: 7.75e1
variant carriers: 817

GenotypeQuality
all individuals: 1912
bin: 6.75e1
variant carriers: 672

Latino
type: Population
allele count: 6834
allele frequency: 6.291658994660284e-1
allele num: 10862
num of homozygotes: 2090

Other
type: Population
allele count: 365
allele frequency: 4.284037558685446e-1
allele num: 852
num of homozygotes: 75

East Asian
type: Population
allele count: 3953
allele frequency: 4.880246913580247e-1
allele num: 8100
num of homozygotes: 918

European (Non-Finnish)
type: Population
allele count: 25386
allele frequency: 4.221852652586063e-1
allele num: 60130
num of homozygotes: 4983

African
type: Population
allele count: 4904
allele frequency: 5.192714951291826e-1
allele num: 9444
num of homozygotes: 1239

South Asian
type: Population
allele count: 5445
allele frequency: 3.58695652173913e-1
allele num: 15180
num of homozygotes: 906

European (Finnish)
type: Population
allele count: 2151
allele frequency: 3.526229508196722e-1
allele num: 6100
num of homozygotes: 342

QD
type: SiteQuality
SIO_000300: 1.643e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.839485e6

VQSLOD
type: SiteQuality
SIO_000300: 6.82e0

GenotypeQuality
all individuals: 1417
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 30413
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1071
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 5.25e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.587615283267457e-5
allele num: 15180
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.603203829865587e-4
allele num: 10862
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.469135802469136e-4
allele num: 8100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.058873358746294e-4
allele num: 9444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.496757026442707e-4
allele num: 60130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 1.839485e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.82e0

QD
type: SiteQuality
SIO_000300: 1.643e1

GenotypeQuality
all individuals: 1071
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1132
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1228
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 961
bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 12
allele frequency: 7.905138339920949e-4
allele num: 15180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.639344262295082e-4
allele num: 6100
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.657153378751611e-3
allele num: 10862
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.469135802469136e-4
allele num: 8100
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.294366793731469e-4
allele num: 9444
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.173708920187793e-3
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 9.645767503741893e-4
allele num: 60130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.839485e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

QD
type: SiteQuality
SIO_000300: 1.643e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21018
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.520795660036166e-4
allele num: 2212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 2.027591e6

FS
type: SiteQuality
SIO_000300: 1.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.503e-1

MQ
type: SiteQuality
SIO_000300: 5.633e1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.546e1

GenotypeQuality
all individuals: 1694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.033423667570009e-5
allele num: 11070
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.426e1

DP
type: SiteQuality
SIO_000300: 1.521085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 5.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5867
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.616710317845249e-5
allele num: 61854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

DP
type: SiteQuality
SIO_000300: 1.475657e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.801e0

VQSLOD
type: SiteQuality
SIO_000300: -8.801e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

FS
type: SiteQuality
SIO_000300: 1.906e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

GenotypeQuality
all individuals: 4646
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.821656050955414e-4
allele num: 15700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.064e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.459791e6

QD
type: SiteQuality
SIO_000300: 1.233e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

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

GenotypeQuality
all individuals: 6521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275022312890476e-4
allele num: 15686
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.097525473071325e-5
allele num: 10992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621902166861295e-5
allele num: 61656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.29553264604811e-4
allele num: 9312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.0154e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.443733e6

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.064e0

GenotypeQuality
all individuals: 1019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.346944239908963e-5
allele num: 59756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.638e-1

DP
type: SiteQuality
SIO_000300: 1.360342e6

FS
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 8.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 986
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

Latino
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: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.842358433841474e-5
allele num: 56546
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.32392e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.808e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

QD
type: SiteQuality
SIO_000300: 2.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.08e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 2.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

MQ
type: SiteQuality
SIO_000300: 5.552e1

DP
type: SiteQuality
SIO_000300: 9.0231e4

FS
type: SiteQuality
SIO_000300: 9.031000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

South Asian
type: Population
allele count: 1981
allele frequency: 3.483995779106577e-1
allele num: 5686
num of homozygotes: 309

African
type: Population
allele count: 35
allele frequency: 2.011494252873563e-1
allele num: 174
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 424
allele frequency: 2.345132743362832e-1
allele num: 1808
num of homozygotes: 39

East Asian
type: Population
allele count: 57
allele frequency: 4.596774193548387e-1
allele num: 124
num of homozygotes: 9

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 1.08021e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.032e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.724e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.555555555555556e-3
allele num: 180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.10599e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.66e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 2.155e1

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

FS
type: SiteQuality
SIO_000300: 5.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 5.137e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 2.155e1

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

DP
type: SiteQuality
SIO_000300: 1.11892e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.73e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.20594e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

QD
type: SiteQuality
SIO_000300: 9.24e0

Other
type: Population
allele count: 72
allele frequency: 6.0e-1
allele num: 120
num of homozygotes: 22

East Asian
type: Population
allele count: 126
allele frequency: 9.545454545454546e-1
allele num: 132
num of homozygotes: 60

African
type: Population
allele count: 202
allele frequency: 6.870748299319728e-1
allele num: 294
num of homozygotes: 68

Latino
type: Population
allele count: 60
allele frequency: 6.382978723404256e-1
allele num: 94
num of homozygotes: 20

European (Non-Finnish)
type: Population
allele count: 1731
allele frequency: 6.488005997001499e-1
allele num: 2668
num of homozygotes: 548

QD
type: SiteQuality
SIO_000300: 2.118e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 1.55212e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.856e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

DP
type: SiteQuality
SIO_000300: 1.4357e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

FS
type: SiteQuality
SIO_000300: 3.6334e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 5.177e1

MQRankSum
type: SiteQuality
SIO_000300: -1.761e0

VQSLOD
type: SiteQuality
SIO_000300: -8.638999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.575e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.4455e5

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 1.136e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.784999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

South Asian
type: Population
allele count: 2417
allele frequency: 3.348573011914658e-1
allele num: 7218
num of homozygotes: 407

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 55
allele frequency: 1.666666666666667e-1
allele num: 330
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 611
allele frequency: 2.155963302752294e-1
allele num: 2834
num of homozygotes: 64

Other
type: Population
allele count: 29
allele frequency: 2.377049180327869e-1
allele num: 122
num of homozygotes: 3

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.370000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.403e0

DP
type: SiteQuality
SIO_000300: 1.78354e5

QD
type: SiteQuality
SIO_000300: 1.379e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.717472118959108e-4
allele num: 2690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

MQRankSum
type: SiteQuality
SIO_000300: -1.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.206e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.44338e5

QD
type: SiteQuality
SIO_000300: 6.13e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.458576429404901e-4
allele num: 6856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 1.623e0

DP
type: SiteQuality
SIO_000300: 1.44131e5

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.310043668122271e-3
allele num: 2290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 9.803921568627451e-3
allele num: 102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.618e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.16174e5

FS
type: SiteQuality
SIO_000300: 2.921e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.75e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.454e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.4212e4

GenotypeQuality
all individuals: 6565
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548083472660846e-5
allele num: 64596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.02e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.756598e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 6711
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64742
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.764493e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 4348
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.460327223520728e-4
allele num: 16258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64912
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.781509e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

FS
type: SiteQuality
SIO_000300: 6.039e0

QD
type: SiteQuality
SIO_000300: 1.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

GenotypeQuality
all individuals: 3311
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 1.79644e6

QD
type: SiteQuality
SIO_000300: 1.515e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.956e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 9153
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
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: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51372952680815e-5
allele num: 66062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.826694e6

QD
type: SiteQuality
SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.41e0

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

DP
type: SiteQuality
SIO_000300: 1.827606e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10082
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South Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

InbreedingCoeff
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.873e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
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allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 6.425e0

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.821272462360369e-4
allele num: 16472
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Other
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DP
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.956e1

QD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 3.950227138060439e-4
allele num: 10126
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

East Asian
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allele num: 8536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.83426e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.37e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

South Asian
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allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.362e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

DP
type: SiteQuality
SIO_000300: 1.834285e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
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allele count: 5
allele frequency: 4.934859849980261e-4
allele num: 10132
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8542
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 1.834863e6

FS
type: SiteQuality
SIO_000300: 3.708e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66424
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South Asian
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allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.835517e6

ReadPosRankSum
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SIO_000300: 1.45e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.772e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.010869237948996e-5
allele num: 66426
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.835584e6

MQ
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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allele frequency: 1.183198580161704e-3
allele num: 10142
num of homozygotes: 0

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

Latino
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allele frequency: 8.682062858135092e-5
allele num: 11518
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East 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: 6598
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

South Asian
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num of homozygotes: 0

QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
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South Asian
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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DP
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QD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

African
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allele frequency: 9.861932938856015e-5
allele num: 10140
num of homozygotes: 0

DP
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
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allele num: 16468
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

Other
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Latino
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQ
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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ClippingRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele num: 11490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.214919207872676e-4
allele num: 16462
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.545e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 1622
allele frequency: 2.458320703243407e-1
allele num: 6598
num of homozygotes: 203

Other
type: Population
allele count: 204
allele frequency: 2.251655629139073e-1
allele num: 906
num of homozygotes: 31

African
type: Population
allele count: 1248
allele frequency: 1.231984205330701e-1
allele num: 10130
num of homozygotes: 60

East Asian
type: Population
allele count: 3776
allele frequency: 4.400932400932401e-1
allele num: 8580
num of homozygotes: 835

South Asian
type: Population
allele count: 5683
allele frequency: 3.452612393681653e-1
allele num: 16460
num of homozygotes: 1014

European (Non-Finnish)
type: Population
allele count: 15679
allele frequency: 2.361935464433129e-1
allele num: 66382
num of homozygotes: 1898

Latino
type: Population
allele count: 1261
allele frequency: 1.098240724612437e-1
allele num: 11482
num of homozygotes: 74

QD
type: SiteQuality
SIO_000300: 1.804e1

DP
type: SiteQuality
SIO_000300: 2.710688e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
all individuals: 7657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.554e-1

FS
type: SiteQuality
SIO_000300: 7.286e0

DP
type: SiteQuality
SIO_000300: 1.872868e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
all individuals: 6772
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.345e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.788813e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.847e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.035e0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

GenotypeQuality
all individuals: 23858
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
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: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.895e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

QD
type: SiteQuality
SIO_000300: 1.711e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.77345e6

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534495457893445e-5
allele num: 65168
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.135e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 1.738214e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.339e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 555
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544783266907653e-5
allele num: 64734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.701321e6

QD
type: SiteQuality
SIO_000300: 1.641e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.606e0

GenotypeQuality
all individuals: 1567
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.644538023284617e-5
allele num: 64592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.695723e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1872
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 1.914527e6

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.455e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 1.938519e6

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.958777e6

FS
type: SiteQuality
SIO_000300: 3.1e0

QD
type: SiteQuality
SIO_000300: 1.459e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.599e1

GenotypeQuality
all individuals: 3537
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051571559353067e-5
allele num: 65540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.958777e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.599e1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 3.1e0

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeQuality
all individuals: 634
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65596
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.826147751106968e-4
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

FS
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.966221e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.828153564899452e-4
allele num: 16410
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.005767e6

QD
type: SiteQuality
SIO_000300: 7.93e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 16424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53802868034126e-5
allele num: 66108
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 1.994e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 2.006942e6

QD
type: SiteQuality
SIO_000300: 1.181e1