4-79792124-GCAGCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792124
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792118
    reference: chr 4
allele count: 2
allele frequency: 1.708116971850232e-5
allele num: 117088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1431_1436delACAGCA
  hgvsp: ENSP00000421768.1:p.Gln485_Gln486del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*407_*412delACAGCA
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.508_513delACAGCA
  hgvsp: ENSP00000424668.1:p.Gln178_Gln179del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1431_1436delACAGCA
  hgvsp: ENSP00000334836.5:p.Gln485_Gln486del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln485_Gln486del
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: GCAGCAA
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

4-79792124-G-GCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792124
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792127
    reference: chr 4
allele count: 2
allele frequency: 1.708116971850232e-5
allele num: 117088
alternate allele: GCAA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1421_1422insACA
  hgvsp: ENSP00000421768.1:p.Gln474dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.498_499insACA
  hgvsp: ENSP00000424668.1:p.Gln167dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1421_1422insACA
  hgvsp: ENSP00000334836.5:p.Gln474dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*397_*398insACA
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln474dup
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

4-79792127-GCAACAGCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792127
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792118
    reference: chr 4
allele count: 1
allele frequency: 8.560764305037153e-6
allele num: 116812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln484_Gln486del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.502_510delACAGCAACA
  hgvsp: ENSP00000424668.1:p.Gln177_Gln179del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln484_Gln486del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 680
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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: 1455
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln484_Gln486del
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: GCAACAGCAA
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-79792130-A-ACAGCAACAGCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792142
    reference: chr 4
allele count: 1
allele frequency: 8.609704859317423e-6
allele num: 116148
alternate allele: ACAGCAACAGCAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln478_Gln481dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsp: ENSP00000424668.1:p.Gln171_Gln174dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln478_Gln481dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln478_Gln481dup
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

4-79792130-A-ACAGCAACAGCAGCAGCAGCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792151
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 116148
alternate allele: ACAGCAACAGCAGCAGCAGCAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsp: ENSP00000424668.1:p.Gln171_Gln177dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln478_Gln484dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln478_Gln484dup
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln478_Gln484dup
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

4-79792130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792130
    reference: chr 4
allele count: 2
allele frequency: 1.721940971863485e-5
allele num: 116148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*401A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.502A>G
  hgvsp: ENST00000502613.1:c.502A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1425A>G
  hgvsp: ENST00000335016.5:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1425A>G
  hgvsp: ENST00000502871.1:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19910
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln475Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

4-79792130-ACAGCAACAGCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792118
    reference: chr 4
allele count: 3
allele frequency: 2.582911457795227e-5
allele num: 116148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsp: ENSP00000424668.1:p.Gln176_Gln179del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln483_Gln486del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln483_Gln486del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln483_Gln486del
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: ACAGCAACAGCAG
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

4-79792131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792131
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792131
    reference: chr 4
allele count: 1
allele frequency: 8.560617734175697e-6
allele num: 116814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.503C>T
  hgvsp: ENSP00000424668.1:p.Gln169Ter
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1426C>T
  hgvsp: ENSP00000421768.1:p.Gln476Ter
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1426C>T
  hgvsp: ENSP00000334836.5:p.Gln476Ter
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*402C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9231
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln476Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

4-79792136-A-ACAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792139
    reference: chr 4
allele count: 897
allele frequency: 8.341547789536333e-3
allele num: 107534
alternate allele: ACAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.535_537dupGCA
  hgvsp: ENSP00000424668.1:p.Gln179dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*434_*436dupGCA
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1458_1460dupGCA
  hgvsp: ENSP00000421768.1:p.Gln486dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1458_1460dupGCA
  hgvsp: ENSP00000334836.5:p.Gln486dup
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 10
hgvs: p.Gln486dup
num of homozygotes: 3
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-79792136-ACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792133
    reference: chr 4
allele count: 2671
allele frequency: 2.483865568099392e-2
allele num: 107534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1458_1460delGCA
  hgvsp: ENSP00000421768.1:p.Gln486del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.535_537delGCA
  hgvsp: ENSP00000424668.1:p.Gln179del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*434_*436delGCA
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1458_1460delGCA
  hgvsp: ENSP00000334836.5:p.Gln486del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 659
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 691
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 271
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 6.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 9.75e1
  variant carriers: 1166
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 79
hgvs: p.Gln486del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: ACAG
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

4-79792136-ACAGCAGCAGCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792124
    reference: chr 4
allele count: 2583
allele frequency: 2.402030985548757e-2
allele num: 107534
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 9.75e1
  variant carriers: 2521
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15181
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 9
num of homozygotes: 46
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7630
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 21
  allele frequency: 2.599009900990099e-2
  allele num: 808
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 439
  allele frequency: 7.289936898040518e-2
  allele num: 6022
  num of homozygotes: 15
population: South Asian
  type: Population
  allele count: 71
  allele frequency: 4.54254638515675e-3
  allele num: 15630
  num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
reference allele: ACAGCAGCAGCAG
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

4-79792136-A-ACAGCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792142
    reference: chr 4
allele count: 8
allele frequency: 7.439507504603195e-5
allele num: 107534
alternate allele: ACAGCAG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*431_*436dupGCAGCA
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1455_1460dupGCAGCA
  hgvsp: ENSP00000421768.1:p.Gln485_Gln486dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1455_1460dupGCAGCA
  hgvsp: ENSP00000334836.5:p.Gln485_Gln486dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.532_537dupGCAGCA
  hgvsp: ENSP00000424668.1:p.Gln178_Gln179dup
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln485_Gln486dup
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-79792136-ACAGCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792130
    reference: chr 4
allele count: 18
allele frequency: 1.673889188535719e-4
allele num: 107534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1455_1460delGCAGCA
  hgvsp: ENSP00000334836.5:p.Gln485_Gln486del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.532_537delGCAGCA
  hgvsp: ENSP00000424668.1:p.Gln178_Gln179del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*431_*436delGCAGCA
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1455_1460delGCAGCA
  hgvsp: ENSP00000421768.1:p.Gln485_Gln486del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15181
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln485_Gln486del
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: ACAGCAG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

4-79792136-ACAGCAGCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792127
    reference: chr 4
allele count: 142
allele frequency: 1.320512582067067e-3
allele num: 107534
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 9.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 1
  allele frequency: 1.163873370577281e-4
  allele num: 8592
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 9
  allele frequency: 5.758157389635317e-4
  allele num: 15630
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 126
  allele frequency: 1.651376146788991e-2
  allele num: 7630
  num of homozygotes: 1
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.237623762376238e-3
  allele num: 808
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: ACAGCAGCAG
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

4-79792137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792137
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792137
    reference: chr 4
allele count: 2
allele frequency: 2.22667557336896e-5
allele num: 89820
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1432C>G
  hgvsp: ENSP00000334836.5:p.Gln478Glu
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*408C>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1432C>G
  hgvsp: ENSP00000421768.1:p.Gln478Glu
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.509C>G
  hgvsp: ENSP00000424668.1:p.Gln171Glu
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln478Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

4-79792140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792140
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792140
    reference: chr 4
allele count: 1
allele frequency: 1.017004312098283e-5
allele num: 98328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1435C>T
  hgvsp: ENSP00000421768.1:p.Gln479Ter
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.512C>T
  hgvsp: ENSP00000424668.1:p.Gln172Ter
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1435C>T
  hgvsp: ENSP00000334836.5:p.Gln479Ter
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*411C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln479Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

4-79792151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792151
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792151
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 114794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.523G>A
  hgvsp: ENST00000502613.1:c.523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1446G>A
  hgvsp: ENST00000335016.5:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1446G>A
  hgvsp: ENST00000502871.1:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*422G>A
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln482Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-79792151-GCAGCAGCAGCAGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792151
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792136
    reference: chr 4
allele count: 28
allele frequency: 2.439151872049062e-4
allele num: 114794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln483_His487del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsp: ENSP00000424668.1:p.Gln176_His180del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln483_His487del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22739
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln483_His487del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: GCAGCAGCAGCAGCAC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

4-79792151-GCAGCAGCAGCAGCACCACCACCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792151
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792127
    reference: chr 4
allele count: 1
allele frequency: 8.711256685889507e-6
allele num: 114794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsp: ENSP00000424668.1:p.Gln176_His183del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln483_His490del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln483_His490del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln483_His490del
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: GCAGCAGCAGCAGCACCACCACCAC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

4-79792153-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792153
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792152
    reference: chr 4
allele count: 1
allele frequency: 8.660708099494215e-6
allele num: 115464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1449delG
  hgvsp: ENSP00000421768.1:p.Gln483HisfsTer37
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1449delG
  hgvsp: ENSP00000334836.5:p.Gln483HisfsTer37
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*425delG
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.526delG
  hgvsp: ENSP00000424668.1:p.Gln176HisfsTer37
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln483HisfsTer37
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: AG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-79792155-CAGCAGCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792155
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792147
    reference: chr 4
allele count: 1
allele frequency: 8.656209965028912e-6
allele num: 115524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.Gln484ProfsTer77
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.Gln484ProfsTer77
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.528_535delAGCAGCAG
  hgvsp: ENSP00000424668.1:p.Gln177ProfsTer77
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln484ProfsTer77
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: CAGCAGCAG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

4-79792157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792157
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792157
    reference: chr 4
allele count: 1
allele frequency: 8.774392812017408e-6
allele num: 113968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*428G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1452G>A
  hgvsp: ENST00000502871.1:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1452G>A
  hgvsp: ENST00000335016.5:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.529G>A
  hgvsp: ENST00000502613.1:c.529G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln484Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-79792160-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792160
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792160
    reference: chr 4
allele count: 2
allele frequency: 1.86584569456106e-5
allele num: 107190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1455G>C
  hgvsp: ENSP00000334836.5:p.Gln485His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.532G>C
  hgvsp: ENSP00000424668.1:p.Gln178His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1455G>C
  hgvsp: ENSP00000421768.1:p.Gln485His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*431G>C
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln485His
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

4-79792160-G-GCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792160
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
allele count: 7
allele frequency: 6.53045993096371e-5
allele num: 107190
alternate allele: GCAC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.534_535insCCA
  hgvsp: ENSP00000424668.1:p.Gln178_Gln179insHis
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1457_1458insCCA
  hgvsp: ENSP00000421768.1:p.Gln485_Gln486insHis
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*433_*434insCCA
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1457_1458insCCA
  hgvsp: ENSP00000334836.5:p.Gln485_Gln486insHis
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln485_Gln486insHis
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

4-79792163-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
allele count: 1252
allele frequency: 1.331461630083376e-2
allele num: 94032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*434G>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1458G>C
  hgvsp: ENSP00000421768.1:p.Gln486His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.535G>C
  hgvsp: ENSP00000424668.1:p.Gln179His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1458G>C
  hgvsp: ENSP00000334836.5:p.Gln486His
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 4989
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 9.75e1
  variant carriers: 1011
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 13707
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 15
hgvs: p.Gln486His
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

4-79792163-G-GCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792166
    reference: chr 4
allele count: 292
allele frequency: 3.105325846520333e-3
allele num: 94032
alternate allele: GCAC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*457_*459dupACC
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1481_1483dupACC
  hgvsp: ENSP00000334836.5:p.His494dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.558_560dupACC
  hgvsp: ENSP00000424668.1:p.His187dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1481_1483dupACC
  hgvsp: ENSP00000421768.1:p.His494dup
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 9.75e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4989
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 6
hgvs: p.His494dup
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

4-79792163-G-GCACCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792169
    reference: chr 4
allele count: 10
allele frequency: 1.063467755657649e-4
allele num: 94032
alternate allele: GCACCAC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.555_560dupACCACC
  hgvsp: ENSP00000424668.1:p.His186_His187dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*454_*459dupACCACC
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1478_1483dupACCACC
  hgvsp: ENSP00000334836.5:p.His493_His494dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1478_1483dupACCACC
  hgvsp: ENSP00000421768.1:p.His493_His494dup
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His493_His494dup
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

4-79792163-G-GCACCACCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792172
    reference: chr 4
allele count: 7
allele frequency: 7.44427428960354e-5
allele num: 94032
alternate allele: GCACCACCAC
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.His492_His494dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.His492_His494dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.552_560dupACCACCACC
  hgvsp: ENSP00000424668.1:p.His185_His187dup
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 13707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His492_His494dup
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

4-79792163-GCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792160
    reference: chr 4
allele count: 2982
allele frequency: 3.171260847371108e-2
allele num: 94032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1481_1483delACC
  hgvsp: ENSP00000421768.1:p.His494del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1481_1483delACC
  hgvsp: ENSP00000334836.5:p.His494del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.558_560delACC
  hgvsp: ENSP00000424668.1:p.His187del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*457_*459delACC
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 603
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 731
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 9.75e1
  variant carriers: 836
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 13707
  bin: 6.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 145
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 185
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.25e1
  variant carriers: 109
hgvs: p.His494del
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: GCAC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

4-79792163-GCACCACCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792154
    reference: chr 4
allele count: 4
allele frequency: 4.253871022630594e-5
allele num: 94032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.552_560delACCACCACC
  hgvsp: ENSP00000424668.1:p.His185_His187del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsp: ENSP00000421768.1:p.His492_His494del
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsp: ENSP00000334836.5:p.His492_His494del
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His492_His494del
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: GCACCACCAC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

4-79792166-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792166
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792166
    reference: chr 4
allele count: 95
allele frequency: 1.19523917364938e-3
allele num: 79482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1461C>G
  hgvsp: ENSP00000421768.1:p.His487Gln
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1461C>G
  hgvsp: ENSP00000334836.5:p.His487Gln
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*437C>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.538C>G
  hgvsp: ENSP00000424668.1:p.His180Gln
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9473
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 2
hgvs: p.His487Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-79792166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792166
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792166
    reference: chr 4
allele count: 1
allele frequency: 1.258146498578294e-5
allele num: 79482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.538C>T
  hgvsp: ENST00000502613.1:c.538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1461C>T
  hgvsp: ENST00000335016.5:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1461C>T
  hgvsp: ENST00000502871.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*437C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His487His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

4-79792169-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792169
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792169
    reference: chr 4
allele count: 1
allele frequency: 9.091074383170603e-6
allele num: 109998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*440C>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.541C>G
  hgvsp: ENSP00000424668.1:p.His181Gln
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1464C>G
  hgvsp: ENSP00000421768.1:p.His488Gln
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1464C>G
  hgvsp: ENSP00000334836.5:p.His488Gln
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9725
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His488Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-79792172-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792172
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792172
    reference: chr 4
allele count: 1
allele frequency: 8.614451604010888e-6
allele num: 116084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1467C>G
  hgvsp: ENSP00000334836.5:p.His489Gln
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.544C>G
  hgvsp: ENSP00000424668.1:p.His182Gln
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*443C>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1467C>G
  hgvsp: ENSP00000421768.1:p.His489Gln
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His489Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-79792172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792172
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792172
    reference: chr 4
allele count: 1
allele frequency: 8.614451604010888e-6
allele num: 116084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.544C>T
  hgvsp: ENST00000502613.1:c.544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*443C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1467C>T
  hgvsp: ENST00000335016.5:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1467C>T
  hgvsp: ENST00000502871.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12790
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His489His
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-79792173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792173
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792173
    reference: chr 4
allele count: 1
allele frequency: 8.601706578585191e-6
allele num: 116256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1468C>T
  hgvsp: ENSP00000334836.5:p.His490Tyr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1468C>T
  hgvsp: ENSP00000421768.1:p.His490Tyr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.545C>T
  hgvsp: ENSP00000424668.1:p.His183Tyr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*444C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His490Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

4-79792185-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792185
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792185
    reference: chr 4
allele count: 5
allele frequency: 4.29597553012338e-5
allele num: 116388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1480C>G
  hgvsp: ENSP00000334836.5:p.His494Asp
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*456C>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1480C>G
  hgvsp: ENSP00000421768.1:p.His494Asp
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.557C>G
  hgvsp: ENSP00000424668.1:p.His187Asp
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13026
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His494Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

4-79792201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792201
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792201
    reference: chr 4
allele count: 1
allele frequency: 8.644835575227359e-6
allele num: 115676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1496C>T
  hgvsp: ENSP00000421768.1:p.Ala499Val
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.573C>T
  hgvsp: ENSP00000424668.1:p.Ala192Val
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*472C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1496C>T
  hgvsp: ENSP00000334836.5:p.Ala499Val
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7486
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala499Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

4-79792211-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792211
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792211
    reference: chr 4
allele count: 1
allele frequency: 8.718243796969539e-6
allele num: 114702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*482G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.583G>T
  hgvsp: ENSP00000424668.1:p.Gln195His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1506G>T
  hgvsp: ENSP00000334836.5:p.Gln502His
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1506G>T
  hgvsp: ENSP00000421768.1:p.Gln502His
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln502His
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-79792218-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792218
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792216
    reference: chr 4
allele count: 2
allele frequency: 1.75297128633033e-5
allele num: 114092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1509+10_1509+11delTT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*485+10_*485+11delTT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.586+10_586+11delTT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1509+10_1509+11delTT
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13172
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1509+10_1509+11delTT
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: ATT
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

4-79792224-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792224
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792224
    reference: chr 4
allele count: 3
allele frequency: 2.640426692953581e-5
allele num: 113618
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1509+10T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1509+10T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.586+10T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*485+10T>C
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13177
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7160
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

4-79792225-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792225
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792224
    reference: chr 4
allele count: 2
allele frequency: 1.761804087385483e-5
allele num: 113520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*485+12delG
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1509+12delG
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1509+12delG
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.586+12delG
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: TG
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-79792236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792236
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792236
    reference: chr 4
allele count: 8
allele frequency: 7.112502000391188e-5
allele num: 112478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.586+22A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*485+22A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1509+22A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1509+22A>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

4-79792245-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792245
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792245
    reference: chr 4
allele count: 2
allele frequency: 1.787278154099122e-5
allele num: 111902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1509+31T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1509+31T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*485+31T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.586+31T>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 252
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13189
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4954
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genotype quality: GenotypeQuality
  all individuals: 800
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11878
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-79792266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792266
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792266
    reference: chr 4
allele count: 1
allele frequency: 9.086283346659882e-6
allele num: 110056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*485+52A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.586+52A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1509+52A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1509+52A>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11193
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-79792966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792966
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792966
    reference: chr 4
allele count: 1
allele frequency: 8.466396870819716e-6
allele num: 118114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-38A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-38A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-38A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-38A>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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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: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 28185
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genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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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: 2427
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genotype quality: GenotypeQuality
  all individuals: 6413
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

4-79792983-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792983
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792983
    reference: chr 4
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-21A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-21A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-21A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-21A>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
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genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
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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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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

4-79792984-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792984
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792983
    reference: chr 4
allele count: 1
allele frequency: 8.35812911637859e-6
allele num: 119644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-17delT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-17delT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-17delT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-17delT
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1191
  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
  all individuals: 3097
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: AT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

4-79792987-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792987
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792987
    reference: chr 4
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-17T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-17T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-17T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-17T>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

4-79792988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792988
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792988
    reference: chr 4
allele count: 1
allele frequency: 8.33541718763024e-6
allele num: 119970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-16G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-16G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-16G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-16G>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

4-79792993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792993
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792993
    reference: chr 4
allele count: 3
allele frequency: 2.491321895397698e-5
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-11T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-11T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-11T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-11T>C
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7824
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
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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
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-79792996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792996
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792996
    reference: chr 4
allele count: 3
allele frequency: 2.488181139586962e-5
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-8C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-8C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-8C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-8C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1510-8C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

4-79792996-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792996
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792993
    reference: chr 4
allele count: 3
allele frequency: 2.488181139586962e-5
allele num: 120570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-5_*486-3delTGT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-5_587-3delTGT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-5_1510-3delTGT
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-5_1510-3delTGT
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1510-5_1510-3delTGT
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CGTT
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

4-79792997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792997
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792997
    reference: chr 4
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-7G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-7G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-7G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-7G>A
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 1933
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1510-7G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-79792997-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79792997
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79792997
    reference: chr 4
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-7G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-7G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-7G>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-7G>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7821
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1444
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genotype quality: GenotypeQuality
  all individuals: 1022
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  variant carriers: 0
hgvs: c.1510-7G>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-79793002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793002
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793002
    reference: chr 4
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-2A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-2A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-2A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-2A>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 690
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genotype depth: GenotypeDepth
  all individuals: 24111
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genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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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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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: 7825
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1510-2A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

4-79793003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793003
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793003
    reference: chr 4
allele count: 2
allele frequency: 1.653630545863443e-5
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1510-1G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.587-1G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*486-1G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1510-1G>A
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7824
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1510-1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

4-79793011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793011
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793011
    reference: chr 4
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*493A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.594A>G
  hgvsp: ENSP00000424668.1:p.His199Arg
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1517A>G
  hgvsp: ENSP00000334836.5:p.His506Arg
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1517A>G
  hgvsp: ENSP00000421768.1:p.His506Arg
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 833
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2483
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 157
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His506Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

4-79793032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793032
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793032
    reference: chr 4
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*514T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.615T>C
  hgvsp: ENSP00000424668.1:p.Met206Thr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1538T>C
  hgvsp: ENSP00000334836.5:p.Met513Thr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1538T>C
  hgvsp: ENSP00000421768.1:p.Met513Thr
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17088
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35490
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met513Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

4-79793033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793033
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793033
    reference: chr 4
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.616G>A
  hgvsp: ENSP00000424668.1:p.Met206Ile
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1539G>A
  hgvsp: ENSP00000421768.1:p.Met513Ile
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1539G>A
  hgvsp: ENSP00000334836.5:p.Met513Ile
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*515G>A
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 822
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genotype depth: GenotypeDepth
  all individuals: 376
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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: 79
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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: 7824
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6878
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met513Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

4-79793055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793055
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793055
    reference: chr 4
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1561C>T
  hgvsp: ENSP00000334836.5:p.His521Tyr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*537C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.638C>T
  hgvsp: ENSP00000424668.1:p.His214Tyr
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1561C>T
  hgvsp: ENSP00000421768.1:p.His521Tyr
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35496
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His521Tyr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

4-79793059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793059
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793059
    reference: chr 4
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1565C>T
  hgvsp: ENSP00000334836.5:p.Ser522Leu
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.642C>T
  hgvsp: ENSP00000424668.1:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1565C>T
  hgvsp: ENSP00000421768.1:p.Ser522Leu
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*541C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser522Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

4-79793060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793060
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793060
    reference: chr 4
allele count: 4
allele frequency: 3.298914657077821e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1566G>A
  hgvsp: ENST00000502871.1:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*542G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1566G>A
  hgvsp: ENST00000335016.5:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.643G>A
  hgvsp: ENST00000502613.1:c.643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17117
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser522Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-79793063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793063
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793063
    reference: chr 4
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1569A>G
  hgvsp: ENST00000502871.1:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1569A>G
  hgvsp: ENST00000335016.5:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*545A>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.646A>G
  hgvsp: ENST00000502613.1:c.646A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val523Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

4-79793069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793069
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793069
    reference: chr 4
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1575A>G
  hgvsp: ENST00000502871.1:c.1575A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.652A>G
  hgvsp: ENST00000502613.1:c.652A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1575A>G
  hgvsp: ENST00000335016.5:c.1575A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*551A>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7823
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln525Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

4-79793099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793099
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793099
    reference: chr 4
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1605A>G
  hgvsp: ENST00000502871.1:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1605A>G
  hgvsp: ENST00000335016.5:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.682A>G
  hgvsp: ENST00000502613.1:c.682A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*581A>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6800
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr535Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-79793109-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793109
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793109
    reference: chr 4
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+7T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+7T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+7T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+7T>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6701
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1608+7T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-79793113-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793113
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793113
    reference: chr 4
allele count: 184
allele frequency: 1.535021857376448e-3
allele num: 119868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+11T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+11T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+11T>G
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+11T>G
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21215
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 363
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7944
  bin: 9.75e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32147
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/4-79793123-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793123
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793123
    reference: chr 4
allele count: 2
allele frequency: 1.676980094246281e-5
allele num: 119262
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+21A>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+21A>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+21A>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+21A>C
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7798
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-79793130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793130
    reference: chr 4
allele count: 1
allele frequency: 8.413542437908056e-6
allele num: 118856
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+28T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+28T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+28T>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+28T>C
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  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
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

4-79793131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793131
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793131
    reference: chr 4
allele count: 1
allele frequency: 8.421478137842754e-6
allele num: 118744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+29C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+29C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+29C>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+29C>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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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: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  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: 8.25e1
  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
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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
  all individuals: 2297
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

4-79793139-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793139
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793139
    reference: chr 4
allele count: 35
allele frequency: 2.955382173134732e-4
allele num: 118428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+37A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+37A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+37A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+37A>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
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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: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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: 1006
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-79793141-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793141
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793141
    reference: chr 4
allele count: 1
allele frequency: 8.452228007302725e-6
allele num: 118312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+39A>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+39A>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+39A>C
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+39A>C
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-79793144-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793144
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793144
    reference: chr 4
allele count: 4
allele frequency: 3.388279939688617e-5
allele num: 118054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+42A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+42A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+42A>T
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+42A>T
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

4-79793147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79793147
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 79793147
    reference: chr 4
allele count: 4
allele frequency: 3.39431791181562e-5
allele num: 117844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000421768
  ensembl transcript: ENST00000502871
  gene symbol: BMP2K
  hgvsc: ENST00000502871.1:c.1608+45G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000334836
  ensembl transcript: ENST00000335016
  gene symbol: BMP2K
  hgvsc: ENST00000335016.5:c.1608+45G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000373662
  ensembl transcript: ENST00000389010
  gene symbol: BMP2K
  hgvsc: ENST00000389010.3:c.*584+45G>A
  variant of: http://identifiers.org/hgnc/18041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138756
  ensembl protein: ENSP00000424668
  ensembl transcript: ENST00000502613
  gene symbol: BMP2K
  hgvsc: ENST00000502613.1:c.685+45G>A
  variant of: http://identifiers.org/hgnc/18041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 205
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.109549426288131e-5
allele num: 64318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
SIO_000300: 2.995e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.943499e6

GenotypeQuality
all individuals: 1499
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.109549426288131e-5
allele num: 64318
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 7.03e0

DP
type: SiteQuality
SIO_000300: 1.943499e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

FS
type: SiteQuality
SIO_000300: 2.995e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

GenotypeQuality
all individuals: 1071
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4730
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63950
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.885e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.941094e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

GenotypeQuality
all individuals: 3386
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63752
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: 8314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 5.804e1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 1.95035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

FS
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.292e-1

GenotypeQuality
all individuals: 3142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
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: 8314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.49e-1

MQ
type: SiteQuality
SIO_000300: 5.804e1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.292e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.95035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
all individuals: 1274
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.137156481365291e-5
allele num: 63752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 1.95035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.292e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

FS
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.804e1

GenotypeQuality
all individuals: 3961
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.705734722047936e-5
allele num: 63752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

DP
type: SiteQuality
SIO_000300: 1.95035e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.292e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

QD
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

MQ
type: SiteQuality
SIO_000300: 5.804e1

GenotypeQuality
all individuals: 4532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4860
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564064064064064e-5
allele num: 63936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.728e0

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.948414e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.649e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
all individuals: 6783
bin: 9.75e1
variant carriers: 824

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1068
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 15181
bin: 6.25e1
variant carriers: 7

Latino
type: Population
allele count: 32
allele frequency: 3.207055522148727e-3
allele num: 9978
num of homozygotes: 1

East Asian
type: Population
allele count: 8
allele frequency: 1.048492791612058e-3
allele num: 7630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 104
allele frequency: 1.727000996346729e-2
allele num: 6022
num of homozygotes: 2

South Asian
type: Population
allele count: 49
allele frequency: 3.134996801023672e-3
allele num: 15630
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.113861386138614e-2
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 269
allele frequency: 3.130819366852886e-2
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 426
allele frequency: 7.235791690729354e-3
allele num: 58874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.938164e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

GenotypeQuality
all individuals: 15181
bin: 6.25e1
variant carriers: 119

GenotypeQuality
all individuals: 1082
bin: 8.75e1
variant carriers: 122

GenotypeQuality
all individuals: 1185
bin: 4.75e1
variant carriers: 86

GenotypeQuality
all individuals: 1068
bin: 9.25e1
variant carriers: 116

East Asian
type: Population
allele count: 230
allele frequency: 3.014416775884666e-2
allele num: 7630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1438
allele frequency: 2.442504331283759e-2
allele num: 58874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 81
allele frequency: 1.345068083693125e-2
allele num: 6022
num of homozygotes: 0

South Asian
type: Population
allele count: 330
allele frequency: 2.111324376199616e-2
allele num: 15630
num of homozygotes: 0

Latino
type: Population
allele count: 372
allele frequency: 3.728202044497896e-2
allele num: 9978
num of homozygotes: 0

Other
type: Population
allele count: 17
allele frequency: 2.103960396039604e-2
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 203
allele frequency: 2.362662942271881e-2
allele num: 8592
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.64e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.938164e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Non-Finnish)
type: Population
allele count: 1920
allele frequency: 3.261201888779428e-2
allele num: 58874
num of homozygotes: 30

Latino
type: Population
allele count: 89
allele frequency: 8.919623170976148e-3
allele num: 9978
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 5.004655493482309e-3
allele num: 8592
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.938164e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 1774
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15181
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 2.004409701342955e-4
allele num: 9978
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.919385796545106e-4
allele num: 15630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.095627951217855e-5
allele num: 58874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.938164e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 1185
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1971
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.660577881102624e-4
allele num: 6022
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.310615989515072e-4
allele num: 7630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.677543186180423e-4
allele num: 15630
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.397085300811904e-5
allele num: 58874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 4.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.938164e6

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.397085300811904e-5
allele num: 58874
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.006614552014432e-4
allele num: 9978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 4.64e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.938164e6

GenotypeQuality
all individuals: 2468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.37211855104281e-4
allele num: 14576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

QD
type: SiteQuality
SIO_000300: 1.125e1

VQSLOD
type: SiteQuality
SIO_000300: -4.537e-1

FS
type: SiteQuality
SIO_000300: 3.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

DP
type: SiteQuality
SIO_000300: 1.716092e6

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.467468632777131e-5
allele num: 15462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.608e0

VQSLOD
type: SiteQuality
SIO_000300: -4.219e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.27e1

MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

DP
type: SiteQuality
SIO_000300: 1.953524e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

GenotypeQuality
all individuals: 1470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
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: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.862e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 2.054716e6

QD
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.155e0

VQSLOD
type: SiteQuality
SIO_000300: -4.645e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

GenotypeQuality
all individuals: 278
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.655493482309125e-4
allele num: 6444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.679764495072315e-4
allele num: 62504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.797591227754808e-4
allele num: 11126
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.155e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

FS
type: SiteQuality
SIO_000300: 2.221e0

QD
type: SiteQuality
SIO_000300: 9.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.862e1

VQSLOD
type: SiteQuality
SIO_000300: -4.645e-1

DP
type: SiteQuality
SIO_000300: 2.054716e6

GenotypeQuality
all individuals: 22739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215657670799903e-4
allele num: 8226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.645e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 2.221e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 2.054716e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590431961320695e-5
allele num: 62876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.82e1

QD
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 2.044469e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587856076725206e-5
allele num: 62978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
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: 16398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -8.566e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.838e1

QD
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 2.0495e6

GenotypeQuality
all individuals: 2762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614205004035513e-5
allele num: 61950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 8.43e0

DP
type: SiteQuality
SIO_000300: 2.055574e6

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
all individuals: 881
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.451965894576962e-5
allele num: 57938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.097522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.048e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 3.48e0

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20831
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.035589768373088e-4
allele num: 57938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.144950767117014e-4
allele num: 8734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.048e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.26e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

DP
type: SiteQuality
SIO_000300: 2.097522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 2608
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1543
bin: 4.75e1
variant carriers: 16

GenotypeQuality
all individuals: 3940
bin: 2.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1089
bin: 9.25e1
variant carriers: 22

East Asian
type: Population
allele count: 7
allele frequency: 1.087970158532794e-3
allele num: 6434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 4.376750700280112e-3
allele num: 5712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 872
allele frequency: 1.708330068176475e-2
allele num: 51044
num of homozygotes: 2

African
type: Population
allele count: 171
allele frequency: 2.240566037735849e-2
allele num: 7632
num of homozygotes: 0

Latino
type: Population
allele count: 110
allele frequency: 1.278475127847513e-2
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.405405405405406e-3
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 63
allele frequency: 4.543487667676331e-3
allele num: 13866
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

MQ
type: SiteQuality
SIO_000300: 6.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 2.188124e6

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 13707
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1497
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1089
bin: 9.25e1
variant carriers: 3

Latino
type: Population
allele count: 62
allele frequency: 7.205950720595072e-3
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 55
allele frequency: 7.20649895178197e-3
allele num: 7632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 133
allele frequency: 2.605595172792101e-3
allele num: 51044
num of homozygotes: 1

East Asian
type: Population
allele count: 8
allele frequency: 1.243394466894622e-3
allele num: 6434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.050420168067227e-3
allele num: 5712
num of homozygotes: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.947209000432713e-3
allele num: 13866
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.351351351351351e-3
allele num: 740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

DP
type: SiteQuality
SIO_000300: 2.188124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 3.17e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

MQ
type: SiteQuality
SIO_000300: 6.023e1

GenotypeQuality
all individuals: 4989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13707
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.877282344643837e-5
allele num: 51044
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.310272536687631e-4
allele num: 7632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.77121541809139e-4
allele num: 6434
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.188124e6

MQ
type: SiteQuality
SIO_000300: 6.023e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

QD
type: SiteQuality
SIO_000300: 3.17e0

GenotypeQuality
all individuals: 4989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.048319630751478e-4
allele num: 13866
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.023e1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

DP
type: SiteQuality
SIO_000300: 2.188124e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

GenotypeQuality
all individuals: 1543
bin: 4.75e1
variant carriers: 177

GenotypeQuality
all individuals: 1919
bin: 2.75e1
variant carriers: 108

GenotypeQuality
all individuals: 1192
bin: 1.75e1
variant carriers: 93

GenotypeQuality
all individuals: 4989
bin: 6.75e1
variant carriers: 170

Latino
type: Population
allele count: 397
allele frequency: 4.614132961413296e-2
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 414
allele frequency: 2.98572046733016e-2
allele num: 13866
num of homozygotes: 0

Other
type: Population
allele count: 31
allele frequency: 4.189189189189189e-2
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1521
allele frequency: 2.979782148734425e-2
allele num: 51044
num of homozygotes: 0

African
type: Population
allele count: 233
allele frequency: 3.05293501048218e-2
allele num: 7632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 138
allele frequency: 2.415966386554622e-2
allele num: 5712
num of homozygotes: 0

East Asian
type: Population
allele count: 248
allele frequency: 3.854522847373329e-2
allele num: 6434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 3.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

MQ
type: SiteQuality
SIO_000300: 6.023e1

DP
type: SiteQuality
SIO_000300: 2.188124e6

GenotypeQuality
all individuals: 1848
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4773
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.211885186787827e-5
allele num: 13866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

QD
type: SiteQuality
SIO_000300: 3.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 2.188124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQ
type: SiteQuality
SIO_000300: 6.023e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 1912
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 10545
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1244
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4125
bin: 6.75e1
variant carriers: 1

East Asian
type: Population
allele count: 7
allele frequency: 1.226778829302489e-3
allele num: 5706
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 7.365939893930466e-4
allele num: 6788
num of homozygotes: 0

African
type: Population
allele count: 46
allele frequency: 7.648819421350183e-3
allele num: 6014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.459143968871595e-3
allele num: 12336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.949814126394052e-4
allele num: 43040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.979307600477517e-4
allele num: 5026
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.073784e6

FS
type: SiteQuality
SIO_000300: 2.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

QD
type: SiteQuality
SIO_000300: 5.76e0

MQ
type: SiteQuality
SIO_000300: 6.022e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

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

GenotypeQuality
all individuals: 2540
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.752541184717841e-4
allele num: 5706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.043e0

MQ
type: SiteQuality
SIO_000300: 6.022e1

DP
type: SiteQuality
SIO_000300: 2.073784e6

QD
type: SiteQuality
SIO_000300: 5.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 2406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.540164090822362e-5
allele num: 10482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

QD
type: SiteQuality
SIO_000300: 1.232e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 2.311799e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.807e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
all individuals: 2659
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
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: 8326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63358
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.905e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 2.319576e6

FS
type: SiteQuality
SIO_000300: 1.145e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.379e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.711e-1

GenotypeQuality
all individuals: 14776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.201056930098487e-4
allele num: 8326
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63358
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.319576e6

FS
type: SiteQuality
SIO_000300: 1.145e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.379e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

VQSLOD
type: SiteQuality
SIO_000300: -4.711e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 15075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63424
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.07342206955775e-4
allele num: 9316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.319e-1

DP
type: SiteQuality
SIO_000300: 2.321759e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

QD
type: SiteQuality
SIO_000300: 1.456e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.392901071867861e-4
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.333689e6

FS
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
all individuals: 3177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15581
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63050
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.088850174216028e-4
allele num: 9184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 6.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

DP
type: SiteQuality
SIO_000300: 2.329809e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.966e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.255e1

GenotypeQuality
all individuals: 4598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 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: 8986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599027791103009e-5
allele num: 62538
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: -2.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.314356e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
all individuals: 2818
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606064499550302e-5
allele num: 62264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.024e1

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

FS
type: SiteQuality
SIO_000300: 5.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

DP
type: SiteQuality
SIO_000300: 2.301884e6

GenotypeQuality
all individuals: 2821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62030
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.382187147688839e-4
allele num: 8870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
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: 4.53e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 4.076e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

DP
type: SiteQuality
SIO_000300: 2.285948e6

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

GenotypeQuality
all individuals: 3171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.255299954894001e-4
allele num: 8868
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.282896e6

MQ
type: SiteQuality
SIO_000300: 6.028e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.574e0

QD
type: SiteQuality
SIO_000300: 1.427e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 4307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13187
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2818
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15018
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.687575684185032e-4
allele num: 8258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

DP
type: SiteQuality
SIO_000300: 2.253223e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
all individuals: 870
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4520
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
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: 8248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.255632243781742e-5
allele num: 61432
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.506e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -8.147e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 2.241896e6

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e0

GenotypeQuality
all individuals: 4319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60926
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.83e1

FS
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 2.231437e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.782389e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.573e1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

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

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512355948095944e-5
allele num: 66122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15472
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 1.262e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 1.83436e6

GenotypeQuality
all individuals: 7821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.079e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 1.836783e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 7822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.841975e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.623e1

FS
type: SiteQuality
SIO_000300: 1.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.761e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

FS
type: SiteQuality
SIO_000300: 3.172e0

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 1.84419e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 34656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.897430944562488e-4
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.362e1

FS
type: SiteQuality
SIO_000300: 1.283e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.850716e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515895953757225e-5
allele num: 66432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.854786e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 7.49e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7825
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515895953757225e-5
allele num: 66432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 1.854786e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.53e1

GenotypeQuality
all individuals: 3109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 1.85595e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.069e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

FS
type: SiteQuality
SIO_000300: 9.81e-1

DP
type: SiteQuality
SIO_000300: 1.85595e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 1.859244e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.283e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.113e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 6612
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.972e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.614e0

DP
type: SiteQuality
SIO_000300: 1.859655e6

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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Latino
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allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16420
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.861902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 1.864067e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 1.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.323e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.076e1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.864132e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.864179e6

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.79e-1

FS
type: SiteQuality
SIO_000300: 1.3944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.296e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.1e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10394
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.501260352898812e-5
allele num: 66648
num of homozygotes: 0

Other
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allele num: 906
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South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.863946e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

East Asian
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African
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allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509798592867711e-5
allele num: 66234
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.597e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.416e1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

DP
type: SiteQuality
SIO_000300: 1.8389e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6668
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.706853038245001e-4
allele num: 10302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 162
allele frequency: 2.449942532212208e-3
allele num: 66124
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.128523901243215e-4
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.256597134958532e-4
allele num: 15916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033060357901122e-4
allele num: 6594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

DP
type: SiteQuality
SIO_000300: 1.835236e6

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038036213391663e-5
allele num: 65832
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.795053e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.08e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 7.225e0

DP
type: SiteQuality
SIO_000300: 1.760312e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.799e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.85e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7791
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524622655892666e-5
allele num: 65590
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.889e1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.912e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 1.755715e6

FS
type: SiteQuality
SIO_000300: 4.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.518e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.749770852428964e-4
allele num: 65460
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.414427157001414e-3
allele num: 11312
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: 8540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.832841691248771e-5
allele num: 10170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.718375e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
all individuals: 2209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
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: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529706908156397e-5
allele num: 65372
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 3.9e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 2.099e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -2.053e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

DP
type: SiteQuality
SIO_000300: 1.709325e6

GenotypeQuality
all individuals: 7786
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.540449637103912e-4
allele num: 11298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 1.692169e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 2220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7784
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4294
bin: 3.25e1
variant carriers: 0