8-22054176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054176
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054176
    reference: chr 8
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-17C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-17C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-22054183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054183
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054183
    reference: chr 8
allele count: 3
allele frequency: 2.482416218452627e-5
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*386G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-10G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-10G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10184
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

8-22054188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054188
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054188
    reference: chr 8
allele count: 1055
allele frequency: 8.724343813571936e-3
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*391C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-5C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-5C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 8.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 25672
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
hgvs: c.1766-5C>T
num of homozygotes: 50
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-22054189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054189
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054189
    reference: chr 8
allele count: 40
allele frequency: 3.307479865716317e-4
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*392G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-4G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-4G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1766-4G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-22054189-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054189
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054189
    reference: chr 8
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*392G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-4G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-4G>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1766-4G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

8-22054189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054189
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054189
    reference: chr 8
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-4G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*392G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-4G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1766-4G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

8-22054197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054197
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054197
    reference: chr 8
allele count: 14240
allele frequency: 1.176295659931603e-1
allele num: 121058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1617T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*400T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1027T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1770T>C
  hgvsp: ENST00000521385.1:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1770T>C
  hgvsp: ENST00000520970.1:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1770T>C
  hgvsp: ENST00000397816.3:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1237T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1237T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1770T>C
  hgvsp: ENST00000306349.8:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1770T>C
  hgvsp: ENST00000306385.5:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1027T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 25707
  bin: 2.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 647
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 704
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 835
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 2.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.75e1
  variant carriers: 917
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 847
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 9.75e1
  variant carriers: 5124
genotype quality: GenotypeQuality
hgvs: p.Ala590Ala
num of homozygotes: 904
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-22054203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054203
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054203
    reference: chr 8
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1776C>T
  hgvsp: ENST00000397816.3:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1776C>T
  hgvsp: ENST00000306349.8:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1033C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1776C>T
  hgvsp: ENST00000521385.1:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*406C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1776C>T
  hgvsp: ENST00000520970.1:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1243C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1033C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1776C>T
  hgvsp: ENST00000306385.5:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1623C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1243C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly592Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-22054211-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054211
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054211
    reference: chr 8
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1784T>A
  hgvsp: ENSP00000430406.1:p.Leu595His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1251T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1251T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1041T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1631T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1041T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1784T>A
  hgvsp: ENSP00000306121.8:p.Leu595His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1784T>A
  hgvsp: ENSP00000380917.3:p.Leu595His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1784T>A
  hgvsp: ENSP00000305714.5:p.Leu595His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*414T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1784T>A
  hgvsp: ENSP00000428332.1:p.Leu595His
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu595His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

8-22054212-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054212
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054212
    reference: chr 8
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1252C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*415C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1632C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1785C>G
  hgvsp: ENST00000306349.8:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1042C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1785C>G
  hgvsp: ENST00000520970.1:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1785C>G
  hgvsp: ENST00000306385.5:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1785C>G
  hgvsp: ENST00000521385.1:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1042C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1252C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1785C>G
  hgvsp: ENST00000397816.3:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu595Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

8-22054212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054212
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054212
    reference: chr 8
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1785C>T
  hgvsp: ENST00000521385.1:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1785C>T
  hgvsp: ENST00000397816.3:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1252C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1632C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1042C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1785C>T
  hgvsp: ENST00000306349.8:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*415C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1785C>T
  hgvsp: ENST00000306385.5:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1785C>T
  hgvsp: ENST00000520970.1:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1252C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1042C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu595Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-22054216-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054216
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054216
    reference: chr 8
allele count: 5
allele frequency: 4.126706393093544e-5
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1789A>C
  hgvsp: ENSP00000428332.1:p.Lys597Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1789A>C
  hgvsp: ENSP00000305714.5:p.Lys597Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*419A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1789A>C
  hgvsp: ENSP00000430406.1:p.Lys597Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1256A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1046A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1046A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1636A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1789A>C
  hgvsp: ENSP00000380917.3:p.Lys597Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1256A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1789A>C
  hgvsp: ENSP00000306121.8:p.Lys597Gln
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys597Gln
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-22054223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054223
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054223
    reference: chr 8
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1796A>G
  hgvsp: ENSP00000306121.8:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1796A>G
  hgvsp: ENSP00000430406.1:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*426A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1643A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1796A>G
  hgvsp: ENSP00000305714.5:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1796A>G
  hgvsp: ENSP00000380917.3:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1796A>G
  hgvsp: ENSP00000428332.1:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1263A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1263A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1053A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1053A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn599Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

8-22054224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054224
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054224
    reference: chr 8
allele count: 4
allele frequency: 3.300874731803928e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1054C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1797C>T
  hgvsp: ENST00000521385.1:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*427C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1797C>T
  hgvsp: ENST00000306385.5:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1797C>T
  hgvsp: ENST00000306349.8:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1797C>T
  hgvsp: ENST00000397816.3:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1644C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1264C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1054C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1797C>T
  hgvsp: ENST00000520970.1:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1264C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn599Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-22054225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054225
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054225
    reference: chr 8
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1055G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1798G>A
  hgvsp: ENSP00000428332.1:p.Gly600Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1798G>A
  hgvsp: ENSP00000305714.5:p.Gly600Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1798G>A
  hgvsp: ENSP00000306121.8:p.Gly600Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1265G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1798G>A
  hgvsp: ENSP00000430406.1:p.Gly600Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*428G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1798G>A
  hgvsp: ENSP00000380917.3:p.Gly600Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1055G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1265G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1645G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly600Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-22054231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054231
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054231
    reference: chr 8
allele count: 14
allele frequency: 1.155935729973414e-4
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1271A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1061A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1651A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1804A>G
  hgvsp: ENSP00000428332.1:p.Ile602Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1271A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1804A>G
  hgvsp: ENSP00000380917.3:p.Ile602Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1804A>G
  hgvsp: ENSP00000305714.5:p.Ile602Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1804A>G
  hgvsp: ENSP00000306121.8:p.Ile602Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1804A>G
  hgvsp: ENSP00000430406.1:p.Ile602Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1061A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*434A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile602Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-22054235-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054235
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054235
    reference: chr 8
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1808C>A
  hgvsp: ENSP00000380917.3:p.Thr603Asn
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1275C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*438C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1808C>A
  hgvsp: ENSP00000305714.5:p.Thr603Asn
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1808C>A
  hgvsp: ENSP00000428332.1:p.Thr603Asn
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1655C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1808C>A
  hgvsp: ENSP00000306121.8:p.Thr603Asn
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1065C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1808C>A
  hgvsp: ENSP00000430406.1:p.Thr603Asn
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1065C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1275C>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr603Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-22054235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054235
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054235
    reference: chr 8
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1065C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1808C>T
  hgvsp: ENSP00000306121.8:p.Thr603Ile
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1808C>T
  hgvsp: ENSP00000305714.5:p.Thr603Ile
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1065C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1275C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1275C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1808C>T
  hgvsp: ENSP00000380917.3:p.Thr603Ile
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1808C>T
  hgvsp: ENSP00000428332.1:p.Thr603Ile
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1655C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*438C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1808C>T
  hgvsp: ENSP00000430406.1:p.Thr603Ile
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr603Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

8-22054242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054242
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054242
    reference: chr 8
allele count: 6
allele frequency: 4.950821836424846e-5
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1282G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1072G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1815G>A
  hgvsp: ENST00000397816.3:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1815G>A
  hgvsp: ENST00000306385.5:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1815G>A
  hgvsp: ENST00000520970.1:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1815G>A
  hgvsp: ENST00000521385.1:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1282G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1815G>A
  hgvsp: ENST00000306349.8:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1662G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1072G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro605Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

8-22054242-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054242
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054242
    reference: chr 8
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1815G>C
  hgvsp: ENST00000520970.1:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1815G>C
  hgvsp: ENST00000306349.8:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1815G>C
  hgvsp: ENST00000397816.3:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1072G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1815G>C
  hgvsp: ENST00000306385.5:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1662G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1282G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1072G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1815G>C
  hgvsp: ENST00000521385.1:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1282G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*445G>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro605Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-22054252-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054252
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054252
    reference: chr 8
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*455A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1825A>C
  hgvsp: ENSP00000305714.5:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1292A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1082A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1825A>C
  hgvsp: ENSP00000428332.1:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1292A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1825A>C
  hgvsp: ENSP00000380917.3:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1825A>C
  hgvsp: ENSP00000306121.8:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1825A>C
  hgvsp: ENSP00000430406.1:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1082A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1672A>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys609Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-22054259-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054259
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054260
    reference: chr 8
allele count: 37
allele frequency: 3.061190720455373e-4
allele num: 120868
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1096dupC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1839dupC
  hgvsp: ENSP00000380917.3:p.Asn614GlnfsTer21
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1686dupC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1839dupC
  hgvsp: ENSP00000305714.5:p.Asn614GlnfsTer21
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1306dupC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1839dupC
  hgvsp: ENSP00000306121.8:p.Asn614GlnfsTer21
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1839dupC
  hgvsp: ENSP00000430406.1:p.Asn614GlnfsTer21
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*469dupC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1096dupC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1839dupC
  hgvsp: ENSP00000428332.1:p.Asn614GlnfsTer21
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1306dupC
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32834
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn614GlnfsTer21
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-22054259-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054259
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054258
    reference: chr 8
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1839delC
  hgvsp: ENSP00000430406.1:p.Asn614ThrfsTer130
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1306delC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1839delC
  hgvsp: ENSP00000305714.5:p.Asn614ThrfsTer138
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1839delC
  hgvsp: ENSP00000306121.8:p.Asn614ThrfsTer188
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1686delC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1839delC
  hgvsp: ENSP00000380917.3:p.Asn614ThrfsTer165
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1306delC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1096delC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1839delC
  hgvsp: ENSP00000428332.1:p.Asn614ThrfsTer188
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*469delC
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1096delC
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn614ThrfsTer138
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

8-22054264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054264
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054264
    reference: chr 8
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1837C>T
  hgvsp: ENSP00000430406.1:p.Pro613Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1304C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1837C>T
  hgvsp: ENSP00000306121.8:p.Pro613Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1837C>T
  hgvsp: ENSP00000428332.1:p.Pro613Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*467C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1304C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1094C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1684C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1837C>T
  hgvsp: ENSP00000305714.5:p.Pro613Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1837C>T
  hgvsp: ENSP00000380917.3:p.Pro613Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1094C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro613Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

8-22054265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054265
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054265
    reference: chr 8
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1305C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1838C>T
  hgvsp: ENSP00000430406.1:p.Pro613Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1095C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1685C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1838C>T
  hgvsp: ENSP00000306121.8:p.Pro613Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*468C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1095C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1838C>T
  hgvsp: ENSP00000305714.5:p.Pro613Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1838C>T
  hgvsp: ENSP00000380917.3:p.Pro613Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1305C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1838C>T
  hgvsp: ENSP00000428332.1:p.Pro613Leu
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro613Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-22054266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054266
    reference: chr 8
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1839C>G
  hgvsp: ENST00000306385.5:c.1839C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1096C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1839C>G
  hgvsp: ENST00000306349.8:c.1839C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1306C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1839C>G
  hgvsp: ENST00000520970.1:c.1839C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1839C>G
  hgvsp: ENST00000521385.1:c.1839C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*469C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1306C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1096C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1686C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1839C>G
  hgvsp: ENST00000397816.3:c.1839C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro613Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-22054287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054287
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054287
    reference: chr 8
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1707G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1860G>A
  hgvsp: ENST00000397816.3:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1860G>A
  hgvsp: ENST00000520970.1:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1327G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1860G>A
  hgvsp: ENST00000306349.8:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*490G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1117G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1860G>A
  hgvsp: ENST00000521385.1:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1117G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1860G>A
  hgvsp: ENST00000306385.5:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1327G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln620Gln
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: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-22054295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054295
    reference: chr 8
allele count: 3
allele frequency: 2.480281760007937e-5
allele num: 120954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1868C>T
  hgvsp: ENSP00000428332.1:p.Ala623Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1868C>T
  hgvsp: ENSP00000306121.8:p.Ala623Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1868C>T
  hgvsp: ENSP00000380917.3:p.Ala623Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1715C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*498C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1868C>T
  hgvsp: ENSP00000305714.5:p.Ala623Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1335C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1125C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1868C>T
  hgvsp: ENSP00000430406.1:p.Ala623Val
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1125C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1335C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala623Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-22054310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054310
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054310
    reference: chr 8
allele count: 3
allele frequency: 2.489296027083541e-5
allele num: 120516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1883G>A
  hgvsp: ENSP00000428332.1:p.Arg628His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1350G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1883G>A
  hgvsp: ENSP00000306121.8:p.Arg628His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1730G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*513G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1883G>A
  hgvsp: ENSP00000305714.5:p.Arg628His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1883G>A
  hgvsp: ENSP00000380917.3:p.Arg628His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1883G>A
  hgvsp: ENSP00000430406.1:p.Arg628His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1140G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1350G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1140G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg628His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

8-22054310-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054310
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054310
    reference: chr 8
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1883G>T
  hgvsp: ENSP00000306121.8:p.Arg628Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1140G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1730G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1883G>T
  hgvsp: ENSP00000305714.5:p.Arg628Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*513G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1883G>T
  hgvsp: ENSP00000380917.3:p.Arg628Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1350G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1883G>T
  hgvsp: ENSP00000430406.1:p.Arg628Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1140G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1883G>T
  hgvsp: ENSP00000428332.1:p.Arg628Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1350G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg628Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

8-22054314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054314
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054314
    reference: chr 8
allele count: 4
allele frequency: 3.319667369329593e-5
allele num: 120494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1887C>T
  hgvsp: ENST00000306349.8:c.1887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1354C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1887C>T
  hgvsp: ENST00000397816.3:c.1887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1887C>T
  hgvsp: ENST00000521385.1:c.1887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1354C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1144C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*517C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1887C>T
  hgvsp: ENST00000306385.5:c.1887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1887C>T
  hgvsp: ENST00000520970.1:c.1887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1734C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1144C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile629Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/8-22054314-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054314
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054314
    reference: chr 8
allele count: 1
allele frequency: 8.299168423323983e-6
allele num: 120494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1887C>A
  hgvsp: ENST00000397816.3:c.1887C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1144C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1887C>A
  hgvsp: ENST00000521385.1:c.1887C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1887C>A
  hgvsp: ENST00000306349.8:c.1887C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1887C>A
  hgvsp: ENST00000306385.5:c.1887C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*517C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1734C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1144C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1354C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1354C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1887C>A
  hgvsp: ENST00000520970.1:c.1887C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile629Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-22054325-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054325
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054325
    reference: chr 8
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*528T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1745T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1155T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1898T>A
  hgvsp: ENSP00000428332.1:p.Phe633Tyr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1898T>A
  hgvsp: ENSP00000305714.5:p.Phe633Tyr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1365T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1898T>A
  hgvsp: ENSP00000306121.8:p.Phe633Tyr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1155T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1365T>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1898T>A
  hgvsp: ENSP00000430406.1:p.Phe633Tyr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1898T>A
  hgvsp: ENSP00000380917.3:p.Phe633Tyr
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe633Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-22054326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054326
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054326
    reference: chr 8
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1746T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*529T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1156T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1899T>C
  hgvsp: ENST00000306385.5:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1899T>C
  hgvsp: ENST00000397816.3:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1899T>C
  hgvsp: ENST00000520970.1:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1899T>C
  hgvsp: ENST00000306349.8:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1156T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1366T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1899T>C
  hgvsp: ENST00000521385.1:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1366T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe633Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-22054332-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054332
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054332
    reference: chr 8
allele count: 4
allele frequency: 3.356042554619593e-5
allele num: 119188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1905C>G
  hgvsp: ENSP00000305714.5:p.Phe635Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1905C>G
  hgvsp: ENSP00000380917.3:p.Phe635Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1372C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1162C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*535C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1162C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1752C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1905C>G
  hgvsp: ENSP00000430406.1:p.Phe635Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1372C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1905C>G
  hgvsp: ENSP00000306121.8:p.Phe635Leu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1905C>G
  hgvsp: ENSP00000428332.1:p.Phe635Leu
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31598
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe635Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

8-22054344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054344
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054344
    reference: chr 8
allele count: 1
allele frequency: 8.520500323779012e-6
allele num: 117364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1917G>A
  hgvsp: ENST00000397816.3:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1384G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1764G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1917G>A
  hgvsp: ENST00000520970.1:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1917G>A
  hgvsp: ENST00000306385.5:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1917G>A
  hgvsp: ENST00000521385.1:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1917G>A
  hgvsp: ENST00000306349.8:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1174G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1384G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*547G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1174G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu639Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

8-22054346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054346
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054346
    reference: chr 8
allele count: 1
allele frequency: 8.53373384990869e-6
allele num: 117182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1919G>A
  hgvsp: ENSP00000430406.1:p.Gly640Asp
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1386G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1919G>A
  hgvsp: ENSP00000305714.5:p.Gly640Asp
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1919G>A
  hgvsp: ENSP00000306121.8:p.Gly640Asp
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1766G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1919G>A
  hgvsp: ENSP00000380917.3:p.Gly640Asp
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1176G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1176G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1386G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1919G>A
  hgvsp: ENSP00000428332.1:p.Gly640Asp
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*549G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly640Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

8-22054347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054347
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054347
    reference: chr 8
allele count: 1
allele frequency: 8.551686392556613e-6
allele num: 116936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1920C>T
  hgvsp: ENST00000397816.3:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1920C>T
  hgvsp: ENST00000306385.5:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1920C>T
  hgvsp: ENST00000521385.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1920C>T
  hgvsp: ENST00000306349.8:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1387C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1920C>T
  hgvsp: ENST00000520970.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1177C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*550C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1177C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1387C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1767C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly640Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-22054349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054349
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054349
    reference: chr 8
allele count: 1
allele frequency: 8.572065353426254e-6
allele num: 116658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1922A>G
  hgvsp: ENSP00000430406.1:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1769A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1922A>G
  hgvsp: ENSP00000305714.5:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1179A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1922A>G
  hgvsp: ENSP00000306121.8:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1922A>G
  hgvsp: ENSP00000428332.1:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1922A>G
  hgvsp: ENSP00000380917.3:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*552A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1389A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1179A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1389A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn641Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-22054369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054369
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054369
    reference: chr 8
allele count: 4
allele frequency: 3.558212354113294e-5
allele num: 112416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+16G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+16G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22024
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

8-22054370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054370
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054370
    reference: chr 8
allele count: 1
allele frequency: 8.893632159373889e-6
allele num: 112440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+17G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+17G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21955
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-22054372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054372
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054372
    reference: chr 8
allele count: 1
allele frequency: 8.908527242276307e-6
allele num: 112252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+19C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+19C>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

8-22054382-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054382
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054382
    reference: chr 8
allele count: 2
allele frequency: 1.814519787338281e-5
allele num: 110222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+29G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+29G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-22054389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054389
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054389
    reference: chr 8
allele count: 1
allele frequency: 9.219478915051721e-6
allele num: 108466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+36G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+36G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-22054390-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054390
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054390
    reference: chr 8
allele count: 1
allele frequency: 9.22951969579503e-6
allele num: 108348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+37C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+37C>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-22054390-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054390
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054390
    reference: chr 8
allele count: 1
allele frequency: 9.22951969579503e-6
allele num: 108348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+37C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+37C>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-22054398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054398
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054398
    reference: chr 8
allele count: 3
allele frequency: 2.840855286831689e-5
allele num: 105602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+45C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+45C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

8-22054399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054399
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054399
    reference: chr 8
allele count: 7
allele frequency: 6.626905235255136e-5
allele num: 105630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+46G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+46G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17035
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

8-22054399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054399
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054399
    reference: chr 8
allele count: 1
allele frequency: 9.467007478935908e-6
allele num: 105630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+46G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+46G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-22054401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054401
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054401
    reference: chr 8
allele count: 1
allele frequency: 9.517464547444561e-6
allele num: 105070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1183+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*556+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1926+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1926+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1926+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1183+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1773+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1393+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1926+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1393+48G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1926+48G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

8-22054708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054708
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054708
    reference: chr 8
allele count: 1
allele frequency: 8.58236495648741e-6
allele num: 116518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-45G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-22054717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054717
    reference: chr 8
allele count: 1
allele frequency: 8.563990134283366e-6
allele num: 116768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-36T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-36T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-22054727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054727
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054727
    reference: chr 8
allele count: 17
allele frequency: 1.449374211369914e-4
allele num: 117292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-26G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-26G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-22054737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054737
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054737
    reference: chr 8
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-16C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-16C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-22054740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054740
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054740
    reference: chr 8
allele count: 14
allele frequency: 1.181753722524226e-4
allele num: 118468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-13G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-13G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-22054743-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054743
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054743
    reference: chr 8
allele count: 1
allele frequency: 8.421619982819896e-6
allele num: 118742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-10T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-10T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

8-22054747-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054747
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054747
    reference: chr 8
allele count: 2
allele frequency: 1.679317525357695e-5
allele num: 119096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-6C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-6C>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1927-6C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-22054747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054747
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054747
    reference: chr 8
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1927-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1184-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1927-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1394-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1774-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1184-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*557-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1394-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1927-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1927-6C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1927-6C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1927-6C>T
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

8-22054761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054761
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054761
    reference: chr 8
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*565G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1402G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1935G>A
  hgvsp: ENST00000520970.1:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1935G>A
  hgvsp: ENST00000306385.5:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1935G>A
  hgvsp: ENST00000306349.8:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1935G>A
  hgvsp: ENST00000397816.3:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1192G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1935G>A
  hgvsp: ENST00000521385.1:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1402G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1192G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1782G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys645Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-22054764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054764
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054764
    reference: chr 8
allele count: 6
allele frequency: 4.98603909054647e-5
allele num: 120336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1938C>T
  hgvsp: ENST00000397816.3:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1938C>T
  hgvsp: ENST00000520970.1:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1938C>T
  hgvsp: ENST00000521385.1:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1938C>T
  hgvsp: ENST00000306349.8:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1938C>T
  hgvsp: ENST00000306385.5:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1195C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1405C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1405C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1195C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1785C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*568C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr646Tyr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-22054770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054770
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054770
    reference: chr 8
allele count: 4
allele frequency: 3.309778741291145e-5
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1201C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1411C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1944C>T
  hgvsp: ENST00000306349.8:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1791C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*574C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1411C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1944C>T
  hgvsp: ENST00000306385.5:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1944C>T
  hgvsp: ENST00000521385.1:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1944C>T
  hgvsp: ENST00000520970.1:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1944C>T
  hgvsp: ENST00000397816.3:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1201C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Phe648Phe
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

8-22054773-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054773
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054773
    reference: chr 8
allele count: 6
allele frequency: 4.956383822363204e-5
allele num: 121056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1947G>T
  hgvsp: ENST00000520970.1:c.1947G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1414G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1204G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1204G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1947G>T
  hgvsp: ENST00000521385.1:c.1947G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*577G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1794G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1947G>T
  hgvsp: ENST00000306385.5:c.1947G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1947G>T
  hgvsp: ENST00000306349.8:c.1947G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1947G>T
  hgvsp: ENST00000397816.3:c.1947G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1414G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val649Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

8-22054780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054780
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054780
    reference: chr 8
allele count: 5
allele frequency: 4.126161514466322e-5
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1954C>T
  hgvsp: ENSP00000380917.3:p.Arg652Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1954C>T
  hgvsp: ENSP00000306121.8:p.Arg652Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1421C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*584C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1954C>T
  hgvsp: ENSP00000430406.1:p.Arg652Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1211C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1211C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1954C>T
  hgvsp: ENSP00000305714.5:p.Arg652Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1801C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1954C>T
  hgvsp: ENSP00000428332.1:p.Arg652Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1421C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg652Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-22054781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054781
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054781
    reference: chr 8
allele count: 5
allele frequency: 4.125208323020312e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1212G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1955G>A
  hgvsp: ENSP00000306121.8:p.Arg652His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1955G>A
  hgvsp: ENSP00000430406.1:p.Arg652His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1955G>A
  hgvsp: ENSP00000428332.1:p.Arg652His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1212G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1422G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1955G>A
  hgvsp: ENSP00000380917.3:p.Arg652His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1422G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1955G>A
  hgvsp: ENSP00000305714.5:p.Arg652His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1802G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*585G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg652His
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

8-22054789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054789
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054789
    reference: chr 8
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1963C>T
  hgvsp: ENSP00000306121.8:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1220C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1963C>T
  hgvsp: ENSP00000305714.5:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1810C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1220C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1430C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*593C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1963C>T
  hgvsp: ENSP00000380917.3:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1430C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1963C>T
  hgvsp: ENSP00000428332.1:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1963C>T
  hgvsp: ENSP00000430406.1:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu655Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-22054791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054791
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054791
    reference: chr 8
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1965C>T
  hgvsp: ENST00000521385.1:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1432C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1432C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1965C>T
  hgvsp: ENST00000306349.8:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1965C>T
  hgvsp: ENST00000306385.5:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1222C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1965C>T
  hgvsp: ENST00000397816.3:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1965C>T
  hgvsp: ENST00000520970.1:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*595C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1812C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1222C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu655Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

8-22054795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054795
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054795
    reference: chr 8
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1969G>A
  hgvsp: ENSP00000380917.3:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1226G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1969G>A
  hgvsp: ENSP00000305714.5:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1436G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1969G>A
  hgvsp: ENSP00000428332.1:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1969G>A
  hgvsp: ENSP00000430406.1:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1226G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*599G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1436G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1969G>A
  hgvsp: ENSP00000306121.8:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1816G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala657Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-22054825-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22054825
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22054825
    reference: chr 8
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1999G>T
  hgvsp: ENSP00000306121.8:p.Gly667Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1999G>T
  hgvsp: ENSP00000305714.5:p.Gly667Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1256G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1846G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1999G>T
  hgvsp: ENSP00000430406.1:p.Gly667Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1466G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1999G>T
  hgvsp: ENSP00000428332.1:p.Gly667Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1466G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1999G>T
  hgvsp: ENSP00000380917.3:p.Gly667Cys
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.*629G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1256G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly667Cys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32847
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 3.892e0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 2.169581e6

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 2271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12181
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523522316043426e-5
allele num: 66320
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 2.171253e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

FS
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeDepth
all individuals: 774
bin: 8.25e1
variant carriers: 49

GenotypeDepth
all individuals: 505
bin: 9.25e1
variant carriers: 34

GenotypeDepth
all individuals: 1732
bin: 9.75e1
variant carriers: 224

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2224
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 710
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12477
bin: 9.75e1
variant carriers: 1000

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

East Asian
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: 6610
num of homozygotes: 0

African
type: Population
allele count: 1009
allele frequency: 9.777131782945736e-2
allele num: 10320
num of homozygotes: 50

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 36
allele frequency: 3.111495246326707e-3
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.533751205400193e-5
allele num: 66368
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.749999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 2.192023e6

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeDepth
all individuals: 736
bin: 8.25e1
variant carriers: 10

GenotypeDepth
all individuals: 1062
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 39
allele frequency: 5.8756176931421e-4
allele num: 66376
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.92e0

ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.935e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.935e1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.12e-1

DP
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SIO_000300: 2.152946e6

MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

FS
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SIO_000300: 1.1e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 9.17e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ClippingRankSum
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SIO_000300: -7.12e-1

BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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SIO_000300: 1.1e0

DP
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SIO_000300: 2.152946e6

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

GenotypeDepth
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variant carriers: 879

GenotypeDepth
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variant carriers: 866

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13292

GenotypeQuality
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GenotypeQuality
all individuals: 60
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variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7353
allele frequency: 1.105980386258348e-1
allele num: 66484
num of homozygotes: 421

European (Finnish)
type: Population
allele count: 1043
allele frequency: 1.577912254160363e-1
allele num: 6610
num of homozygotes: 84

African
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allele count: 1187
allele frequency: 1.147303305625362e-1
allele num: 10346
num of homozygotes: 83

Other
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allele count: 121
allele frequency: 1.332599118942731e-1
allele num: 908
num of homozygotes: 8

East Asian
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allele count: 1628
allele frequency: 1.886442641946698e-1
allele num: 8630
num of homozygotes: 138

Latino
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allele count: 661
allele frequency: 5.714038727524205e-2
allele num: 11568
num of homozygotes: 17

South Asian
type: Population
allele count: 2247
allele frequency: 1.360828488372093e-1
allele num: 16512
num of homozygotes: 153

QD
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SIO_000300: 1.576e1

MQRankSum
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SIO_000300: 1.19e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.949e1

InbreedingCoeff
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SIO_000300: 1.31e-2

DP
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SIO_000300: 2.4737e6

ReadPosRankSum
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SIO_000300: 4.74e-1

ClippingRankSum
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SIO_000300: -4.21e-1

VQSLOD
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SIO_000300: 5.97e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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SIO_000300: 1.686436e6

GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 0
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Other
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

DP
type: SiteQuality
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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SIO_000300: 5.34e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Non-Finnish)
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South Asian
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allele num: 16510
num of homozygotes: 0

European (Finnish)
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Other
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QD
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BaseQRankSum
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MQ
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FS
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

South Asian
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allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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ClippingRankSum
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SIO_000300: 3.12e-1

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.505992970650966e-5
allele num: 66578
num of homozygotes: 0

Latino
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South Asian
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Other
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East Asian
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African
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European (Finnish)
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10376
num of homozygotes: 0

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

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

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

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

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

African
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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Other
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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East Asian
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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Other
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66344
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African
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Other
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East Asian
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Latino
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South Asian
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European (Finnish)
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66610
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 16496
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66610
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: 5.48e-1

QD
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BaseQRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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SIO_000300: 8.070000000000001e-1

DP
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SIO_000300: 1.674047e6

InbreedingCoeff
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SIO_000300: 2.0e-4

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

South Asian
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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501907422426482e-5
allele num: 66582
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.89e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 3
allele frequency: 2.60235947258848e-4
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.959e1

VQSLOD
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SIO_000300: -1.004e0

BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 1.0323e1

ReadPosRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

South Asian
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allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

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

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

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.012411133871551e-5
allele num: 66392
num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

East Asian
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European (Finnish)
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South Asian
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allele num: 16220
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Other
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MQ
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 4.636068613815484e-4
allele num: 8628
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53955106690889e-5
allele num: 64954
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -7.0e-4

BaseQRankSum
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SIO_000300: -1.095e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.537316e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

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

African
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allele count: 4
allele frequency: 4.100881689563256e-4
allele num: 9754
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63180
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.4e-3

VQSLOD
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MQ
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ReadPosRankSum
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SIO_000300: 2.77e-1

DP
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SIO_000300: 1.367442e6

ClippingRankSum
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SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 12834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58267915928083e-5
allele num: 63184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.799e0

BaseQRankSum
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SIO_000300: 1.03e0

VQSLOD
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SIO_000300: 2.58e0

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584534938995405e-5
allele num: 63110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9754
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FS
type: SiteQuality
SIO_000300: 1.616e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
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SIO_000300: 1.363513e6

MQRankSum
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ClippingRankSum
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SIO_000300: -9.379999999999999e-1

ReadPosRankSum
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SIO_000300: 7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 1.668613382279326e-4
allele num: 11986
num of homozygotes: 0

DP
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SIO_000300: 1.237543e6

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 9.330000000000001e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.623165822620439e-5
allele num: 61608
num of homozygotes: 0

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

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

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

African
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DP
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624642578632701e-5
allele num: 61552
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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African
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European (Finnish)
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61552
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.201324990798675e-5
allele num: 10868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
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SIO_000300: -1.658e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.153188e6

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
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allele count: 2
allele frequency: 2.145002145002145e-4
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.400263207369807e-5
allele num: 10638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
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InbreedingCoeff
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SIO_000300: -4.6e-3

FS
type: SiteQuality
SIO_000300: 4.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656616526406467e-5
allele num: 60364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
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SIO_000300: -1.214e0

DP
type: SiteQuality
SIO_000300: 1.092604e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.431e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3176e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656616526406467e-5
allele num: 60364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 1.3176e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.092604e6

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.431e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.665889251682548e-5
allele num: 60028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
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DP
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SIO_000300: 1.085899e6

FS
type: SiteQuality
SIO_000300: 7.278e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 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: 65502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13304
num of homozygotes: 0

Other
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 3.2e-3

ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.675858496602578e-4
allele num: 65638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.201109570041609e-4
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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QD
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DP
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BaseQRankSum
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SIO_000300: 3.22e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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QD
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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DP
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ReadPosRankSum
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FS
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QD
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MQ
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Finnish)
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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VQSLOD
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MQ
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DP
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GenotypeQuality
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African
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European (Non-Finnish)
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.436e0

BaseQRankSum
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SIO_000300: -2.602e0

ClippingRankSum
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SIO_000300: 5.2e-2

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 2.75368e6

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: 9.370000000000001e-1

QD
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SIO_000300: 1.259e1

MQRankSum
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SIO_000300: 5.74e-1

ReadPosRankSum
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SIO_000300: -8.599999999999999e-2

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.510665144505198e-5
allele num: 66572
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 6.0e-3

ClippingRankSum
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SIO_000300: -1.0e-1

VQSLOD
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MQRankSum
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SIO_000300: 2.45e-1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -5.02e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.484e1

DP
type: SiteQuality
SIO_000300: 2.756519e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2330
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.19e-1

QD
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SIO_000300: 1.246e1

MQRankSum
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SIO_000300: -3.88e-1

VQSLOD
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DP
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SIO_000300: 2.759516e6

ClippingRankSum
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MQ
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SIO_000300: 5.957e1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -4.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: -7.38e-1

MQ
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VQSLOD
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ClippingRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
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DP
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SIO_000300: 2.759958e6

BaseQRankSum
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SIO_000300: 3.77e0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
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allele num: 8652
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.0e-4

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Other
type: Population
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

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

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

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

Other
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.761991e6

FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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