22-19422284-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422284
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422284
    reference: chr 22
allele count: 3
allele frequency: 2.518003726645515e-5
allele num: 119142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.391A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12617T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12617T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12904T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.163A>G
  hgvsp: ENSP00000333401.3:p.Lys55Glu
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12617T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.436A>G
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44054
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys55Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

22-19422285-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422285
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422285
    reference: chr 22
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12616T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12616T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.437A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.392A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12903T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.164A>T
  hgvsp: ENSP00000333401.3:p.Lys55Met
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12616T>A
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys55Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

22-19422294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422294
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422294
    reference: chr 22
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12607G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12894G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.173C>T
  hgvsp: ENSP00000333401.3:p.Pro58Leu
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12607G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12607G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.401C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.446C>T
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro58Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/22-19422305-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422305
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422305
    reference: chr 22
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.184C>A
  hgvsp: ENSP00000333401.3:p.Gln62Lys
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.457C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.412C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12596G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12596G>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12596G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12883G>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln62Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

22-19422317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422317
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422317
    reference: chr 22
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12584C>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.196G>C
  hgvsp: ENSP00000333401.3:p.Glu66Gln
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12871C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.469G>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12584C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.424G>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12584C>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu66Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

22-19422321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422321
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422321
    reference: chr 22
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12580C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12867C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.200G>A
  hgvsp: ENSP00000333401.3:p.Arg67His
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12580C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.428G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12580C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.473G>A
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg67His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

22-19422338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422338
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422338
    reference: chr 22
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.217C>T
  hgvsp: ENSP00000333401.3:p.Arg73Ter
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12563G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.490C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.445C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12850G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12563G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12563G>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg73Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

22-19422339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422339
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422339
    reference: chr 22
allele count: 5
allele frequency: 4.125684863687372e-5
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12562C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12562C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12562C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.446G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.491G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.218G>A
  hgvsp: ENSP00000333401.3:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12849C>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg73Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

22-19422354-C-CTACTCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422354
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422361
    reference: chr 22
allele count: 2
allele frequency: 1.650737054094653e-5
allele num: 121158
alternate allele: CTACTCAA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.234_240dupTACTCAA
  hgvsp: ENSP00000333401.3:p.Glu81TyrfsTer8
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.462_468dupTACTCAA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.507_513dupTACTCAA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu81TyrfsTer8
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

22-19422358-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422358
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422358
    reference: chr 22
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12543A>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.237T>A
  hgvsp: ENST00000333130.3:c.237T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12830A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.465T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12543A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12543A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.510T>A
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr79Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/22-19422359-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422359
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422357
    reference: chr 22
allele count: 4
allele frequency: 3.302237265747544e-5
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12540_-96+12541delTT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.512_513delAA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.239_240delAA
  hgvsp: ENSP00000333401.3:p.Gln80ArgfsTer6
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12540_192+12541delTT
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.467_468delAA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12540_73+12541delTT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12827_-96+12828delTT
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln80ArgfsTer6
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: CAA
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-19422359-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422359
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422359
    reference: chr 22
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.238C>A
  hgvsp: ENSP00000333401.3:p.Gln80Lys
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12542G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12542G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.466C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12542G>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12829G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.511C>A
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln80Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

22-19422374-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422374
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422374
    reference: chr 22
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12527T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.481A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.253A>G
  hgvsp: ENSP00000333401.3:p.Ile85Val
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12814T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.526A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12527T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12527T>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile85Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-19422380-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422380
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422380
    reference: chr 22
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.487G>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12521C>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12808C>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12521C>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12521C>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.259G>T
  hgvsp: ENSP00000333401.3:p.Asp87Tyr
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.532G>T
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp87Tyr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

22-19422385-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422385
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422385
    reference: chr 22
allele count: 3
allele frequency: 2.497793615639518e-5
allele num: 120106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.537T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.492T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12516A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12516A>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12803A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.264T>G
  hgvsp: ENSP00000333401.3:p.Phe88Leu
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12516A>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe88Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

22-19422397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422397
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422397
    reference: chr 22
allele count: 3
allele frequency: 2.525847842925942e-5
allele num: 118772
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.276A>G
  hgvsp: ENST00000333130.3:c.276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12504T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12504T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.504A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12791T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.549A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12504T>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu92Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

22-19422400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422400
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422400
    reference: chr 22
allele count: 2
allele frequency: 1.688020121199845e-5
allele num: 118482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12501C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12501C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12788C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.279G>A
  hgvsp: ENST00000333130.3:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.507G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12501C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.552G>A
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys93Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

22-19422406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422406
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422406
    reference: chr 22
allele count: 1
allele frequency: 8.485362749257531e-6
allele num: 117850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.513G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.285G>A
  hgvsp: ENST00000333130.3:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12495C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12495C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12495C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.558G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12782C>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu95Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/22-19422424-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422424
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422424
    reference: chr 22
allele count: 4
allele frequency: 3.438257491103509e-5
allele num: 116338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12477T>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12477T>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12764T>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+7A>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+7A>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+7A>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12477T>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: c.296+7A>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

22-19422435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422435
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422435
    reference: chr 22
allele count: 5
allele frequency: 4.336137368831845e-5
allele num: 115310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12466C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12466C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+18G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+18G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12753C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+18G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12466C>T
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5776
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

22-19422436-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422436
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422436
    reference: chr 22
allele count: 2
allele frequency: 1.735418149003002e-5
allele num: 115246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+19G>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12465C>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+19G>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12465C>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12465C>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+19G>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12752C>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-19422437-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422437
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422437
    reference: chr 22
allele count: 88
allele frequency: 7.641674916202088e-4
allele num: 115158
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+20G>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12464C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12464C>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12751C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+20G>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12464C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+20G>C
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39640
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-19422439-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422439
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422439
    reference: chr 22
allele count: 29
allele frequency: 2.52081848368422e-4
allele num: 115042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+22T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+22T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12462A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12749A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+22T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12462A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12462A>T
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

22-19422458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422458
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422458
    reference: chr 22
allele count: 10
allele frequency: 8.855356605210492e-5
allele num: 112926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+41G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12730C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12443C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+41G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12443C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+41G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12443C>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 37405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

22-19422459-AGTAATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422459
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422452
    reference: chr 22
allele count: 1
allele frequency: 8.869022278983965e-6
allele num: 112752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+43_569+49delGTAATAT
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+43_296+49delGTAATAT
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+43_524+49delGTAATAT
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: AGTAATAT
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

22-19422463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422463
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422463
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 112516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+46A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12438T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12438T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+46A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12725T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12438T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+46A>G
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

22-19422466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422466
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422466
    reference: chr 22
allele count: 1
allele frequency: 8.902816851251736e-6
allele num: 112324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+49T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12722A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+49T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12435A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12435A>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+49T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12435A>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-19422467-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19422467
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19422468
    reference: chr 22
allele count: 1
allele frequency: 8.910432334176854e-6
allele num: 112228
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+12433dupT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+12433dupT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12720dupT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.569+52dupA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.296+52dupA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.524+52dupA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+12433dupT
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

22-19423121-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423121
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423122
    reference: chr 22
allele count: 3
allele frequency: 2.651675859142978e-5
allele num: 113136
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-39dupA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11779dupT
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12066dupT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-39dupA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11779dupT
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-39dupA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11779dupT
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13752
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

22-19423126-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423126
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423125
    reference: chr 22
allele count: 1
allele frequency: 8.828774742641217e-6
allele num: 113266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11774delG
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11774delG
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-33delC
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12061delG
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-33delC
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11774delG
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-33delC
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: GC
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

22-19423127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423127
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423127
    reference: chr 22
allele count: 1
allele frequency: 8.832361773538243e-6
allele num: 113220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-34C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11774G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11774G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-34C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-34C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12061G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11774G>A
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

22-19423130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423130
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423130
    reference: chr 22
allele count: 1
allele frequency: 8.811814881392972e-6
allele num: 113484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-31G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11771C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-31G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-31G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11771C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12058C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11771C>T
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18516
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

22-19423133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423133
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423133
    reference: chr 22
allele count: 2
allele frequency: 1.760532384993222e-5
allele num: 113602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-28A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11768T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-28A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11768T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12055T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-28A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11768T>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

22-19423136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423136
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423136
    reference: chr 22
allele count: 6
allele frequency: 5.275745638716939e-5
allele num: 113728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-25T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-25T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11765A>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-25T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12052A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11765A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11765A>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18515
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

22-19423143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423143
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423143
    reference: chr 22
allele count: 2
allele frequency: 1.753340112915103e-5
allele num: 114068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-18C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11758G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11758G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-18C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12045G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-18C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11758G>A
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/22-19423145-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423145
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423145
    reference: chr 22
allele count: 1
allele frequency: 8.746763697431951e-6
allele num: 114328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-16C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12043G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11756G>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11756G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-16C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-16C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11756G>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6394
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

22-19423148-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423148
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423148
    reference: chr 22
allele count: 2
allele frequency: 1.744591765526867e-5
allele num: 114640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11753T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-13A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-13A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11753T>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12040T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-13A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11753T>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18509
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

22-19423151-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423151
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423151
    reference: chr 22
allele count: 1
allele frequency: 8.687795385043092e-6
allele num: 115104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-10T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11750A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-10T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12037A>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-10T>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11750A>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11750A>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13738
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

22-19423152-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423152
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423152
    reference: chr 22
allele count: 1
allele frequency: 8.679651425198764e-6
allele num: 115212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-9T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11749A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11749A>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12036A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-9T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-9T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11749A>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

22-19423159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423159
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423159
    reference: chr 22
allele count: 2
allele frequency: 1.717947396450721e-5
allele num: 116418
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.297-2A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11742T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.570-2A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12029T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.525-2A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11742T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11742T>C
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13736
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18508
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23197
  bin: 6.25e1
  variant carriers: 0
hgvs: c.297-2A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/22-19423163-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423163
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423163
    reference: chr 22
allele count: 1
allele frequency: 8.532568815167494e-6
allele num: 117198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11738T>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12025T>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.527A>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11738T>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11738T>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.299A>C
  hgvsp: ENSP00000333401.3:p.Glu100Ala
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.572A>C
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu100Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

22-19423164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423164
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423164
    reference: chr 22
allele count: 1
allele frequency: 8.522243054371911e-6
allele num: 117340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12024C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11737C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11737C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.528G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.300G>A
  hgvsp: ENST00000333130.3:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11737C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.573G>A
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu100Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

22-19423166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423166
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423166
    reference: chr 22
allele count: 3
allele frequency: 2.537512899023903e-5
allele num: 118226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11735C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.302G>A
  hgvsp: ENSP00000333401.3:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12022C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.530G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.575G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11735C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11735C>T
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg101Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-19423173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423173
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423173
    reference: chr 22
allele count: 5
allele frequency: 4.183050280264369e-5
allele num: 119530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11728C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.582G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12015C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.537G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11728C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11728C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.309G>A
  hgvsp: ENST00000333130.3:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln103Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

22-19423180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423180
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423180
    reference: chr 22
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.316C>T
  hgvsp: ENSP00000333401.3:p.Leu106Phe
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11721G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.544C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11721G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.589C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11721G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12008G>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu106Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

22-19423184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423184
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423184
    reference: chr 22
allele count: 3
allele frequency: 2.488924286923192e-5
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.320C>T
  hgvsp: ENSP00000333401.3:p.Thr107Ile
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11717G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11717G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.593C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11717G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.548C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+12004G>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr107Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

22-19423196-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423196
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423196
    reference: chr 22
allele count: 101
allele frequency: 8.34476262868285e-4
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11705G>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.332C>G
  hgvsp: ENSP00000333401.3:p.Thr111Ser
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11992G>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11705G>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.560C>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.605C>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11705G>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10057
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19249
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr111Ser
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

22-19423198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423198
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423198
    reference: chr 22
allele count: 2
allele frequency: 1.651418568550385e-5
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.607G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11703C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.334G>A
  hgvsp: ENSP00000333401.3:p.Glu112Lys
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.562G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11990C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11703C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11703C>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18473
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu112Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

22-19423202-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423202
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423202
    reference: chr 22
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.338G>C
  hgvsp: ENSP00000333401.3:p.Arg113Thr
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.566G>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11699C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11699C>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11699C>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.611G>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11986C>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg113Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

22-19423210-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423210
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423210
    reference: chr 22
allele count: 10
allele frequency: 8.243751236562685e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.346C>G
  hgvsp: ENSP00000333401.3:p.Leu116Val
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11691G>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11978G>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.574C>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11691G>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.619C>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11691G>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu116Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

22-19423214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423214
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423214
    reference: chr 22
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11974A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.578T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11687A>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.623T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11687A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.350T>C
  hgvsp: ENSP00000333401.3:p.Leu117Pro
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11687A>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18480
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu117Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

22-19423234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423234
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423234
    reference: chr 22
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.370T>C
  hgvsp: ENSP00000333401.3:p.Tyr124His
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.643T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.598T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11954A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11667A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11667A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11667A>G
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr124His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

22-19423235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423235
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423235
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11666T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.599A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.644A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.371A>G
  hgvsp: ENSP00000333401.3:p.Tyr124Cys
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11666T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11953T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11666T>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr124Cys
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: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

22-19423236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423236
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423236
    reference: chr 22
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.645C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.372C>T
  hgvsp: ENST00000333130.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11665G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.600C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11665G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11952G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11665G>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr124Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

22-19423248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423248
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423248
    reference: chr 22
allele count: 43
allele frequency: 3.541951532923675e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11653C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11940C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.384G>A
  hgvsp: ENST00000333130.3:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.612G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11653C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11653C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.657G>A
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu128Glu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-19423249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423249
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423249
    reference: chr 22
allele count: 22
allele frequency: 1.812191103789127e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11652G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.613C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11652G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.658C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.385C>T
  hgvsp: ENSP00000333401.3:p.Arg129Cys
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11652G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11939G>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg129Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS

22-19423250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423250
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423250
    reference: chr 22
allele count: 19288
allele frequency: 1.589006788374085e-1
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11651C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.659G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.386G>A
  hgvsp: ENSP00000333401.3:p.Arg129His
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11651C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11651C>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.614G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11938C>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 3.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 18875
  bin: 2.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 9.75e1
  variant carriers: 14945
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24424
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21219
  bin: 9.75e1
  variant carriers: 17224
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Arg129His
num of homozygotes: 2030
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

22-19423256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423256
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423256
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11645A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.665T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11932A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11645A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.392T>C
  hgvsp: ENSP00000333401.3:p.Met131Thr
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11645A>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.620T>C
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met131Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

22-19423264-G-GAAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423264
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423269
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: GAAACA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.629_630insAACAA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.401_402insAACAA
  hgvsp: ENSP00000333401.3:p.Asp134GlufsTer9
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.674_675insAACAA
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 26793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp134GlufsTer9
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

22-19423266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423266
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423266
    reference: chr 22
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11635G>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11635G>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.402C>G
  hgvsp: ENSP00000333401.3:p.Asp134Glu
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.675C>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11922G>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.630C>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11635G>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5790
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asp134Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

22-19423268-C-CATACTGGGGCCTGTGGGACAGGGCTTGGTGGGATAGAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423268
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423308
    reference: chr 22
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: CATACTGGGGCCTGTGGGACAGGGCTTGGTGGGATAGAGAG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsp: ENSP00000333401.3:p.Ile136TyrfsTer38
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34134
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile136TyrfsTer38
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

22-19423277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423277
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423277
    reference: chr 22
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.413C>T
  hgvsp: ENSP00000333401.3:p.Ala138Val
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11624G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.641C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11624G>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.686C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11911G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11624G>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala138Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

22-19423281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423281
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423281
    reference: chr 22
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.690G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.645G>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11907C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11620C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11620C>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.417G>A
  hgvsp: ENSP00000333401.3:p.Met139Ile
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11620C>T
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met139Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

22-19423283-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423283
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423283
    reference: chr 22
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11905A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11618A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11618A>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.647T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.692T>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11618A>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.419T>G
  hgvsp: ENSP00000333401.3:p.Leu140Arg
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu140Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

22-19423284-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423284
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423284
    reference: chr 22
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.648A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11617T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.693A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11904T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11617T>C
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.420A>G
  hgvsp: ENST00000333130.3:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11617T>C
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu140Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

22-19423289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423289
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423289
    reference: chr 22
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11899G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.425C>T
  hgvsp: ENSP00000333401.3:p.Ala142Val
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11612G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.653C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.698C>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11612G>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11612G>A
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala142Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

22-19423292-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423292
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423292
    reference: chr 22
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.428A>T
  hgvsp: ENSP00000333401.3:p.Gln143Leu
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.656A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11609T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.701A>T
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11609T>A
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11609T>A
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11896T>A
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Gln143Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

22-19423302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423302
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423302
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.711T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.438T>C
  hgvsp: ENST00000333130.3:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11886A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.666T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11599A>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11599A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11599A>G
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34156
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala146Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/22-19423312-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423312
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423312
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.676C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11589G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11876G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.448C>A
  hgvsp: ENSP00000333401.3:p.Leu150Met
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.721C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11589G>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11589G>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu150Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

22-19423313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423313
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423313
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11875A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11588A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11588A>G
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11588A>G
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.677T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.722T>C
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.449T>C
  hgvsp: ENSP00000333401.3:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/14491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu150Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-19423315-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423315
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423315
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11586G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.451C>A
  hgvsp: ENSP00000333401.3:p.Gln151Lys
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11586G>T
  variant of: http://identifiers.org/hgnc/27012
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.724C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.679C>A
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11873G>T
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11586G>T
  variant of: http://identifiers.org/hgnc/4916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln151Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

22-19423317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19423317
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19423317
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185608
  ensembl protein: ENSP00000333401
  ensembl transcript: ENST00000333130
  gene symbol: MRPL40
  hgvsc: ENST00000333130.3:c.453A>G
  hgvsp: ENST00000333130.3:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000446073
  ensembl transcript: ENST00000541063
  gene symbol: HIRA
  hgvsc: ENST00000541063.1:c.-96+11871T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000443660
  gene symbol: MRPL40
  hgvsc: ENST00000443660.1:n.681A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000404792
  ensembl transcript: ENST00000452818
  gene symbol: HIRA
  hgvsc: ENST00000452818.1:c.73+11584T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185608
  ensembl transcript: ENST00000471259
  gene symbol: MRPL40
  hgvsc: ENST00000471259.1:n.726A>G
  variant of: http://identifiers.org/hgnc/14491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100084
  ensembl protein: ENSP00000441870
  ensembl transcript: ENST00000546308
  gene symbol: HIRA
  hgvsc: ENST00000546308.1:c.-96+11584T>C
  variant of: http://identifiers.org/hgnc/4916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242259
  ensembl protein: ENSP00000424903
  ensembl transcript: ENST00000509549
  gene symbol: C22orf39
  hgvsc: ENST00000509549.1:c.192+11584T>C
  variant of: http://identifiers.org/hgnc/27012
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln151Gln
num of homozygotes: 0
reference allele: A

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

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 1.632e1

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.303e0

FS
type: SiteQuality
SIO_000300: 1.1628e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.45181e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5912
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.796e1

VQSLOD
type: SiteQuality
SIO_000300: -6.091e-1

DP
type: SiteQuality
SIO_000300: 1.453225e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.146e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

FS
type: SiteQuality
SIO_000300: 3.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.465e0

DP
type: SiteQuality
SIO_000300: 1.463086e6

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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
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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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 4.209e0

DP
type: SiteQuality
SIO_000300: 1.470663e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 5.5e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 7.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

DP
type: SiteQuality
SIO_000300: 1.474148e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 10360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.051e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.474977e6

VQSLOD
type: SiteQuality
SIO_000300: -1.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 7.393e0

DP
type: SiteQuality
SIO_000300: 1.476227e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.504577792453396e-5
allele num: 66626
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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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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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

South Asian
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allele num: 16440
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.475891e6

MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10352
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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8644
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele num: 904
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

South Asian
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African
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allele count: 3
allele frequency: 2.897990726429675e-4
allele num: 10352
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
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FS
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.627e0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.475726e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.627e0

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.667e1

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

GenotypeQuality
all individuals: 904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

VQSLOD
type: SiteQuality
SIO_000300: -3.288e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.404e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.548e1

DP
type: SiteQuality
SIO_000300: 1.470309e6

FS
type: SiteQuality
SIO_000300: 6.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1904
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variant carriers: 0

GenotypeQuality
all individuals: 43333
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.250781347668459e-5
allele num: 15998
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 1.466234e6

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.733e0

GenotypeQuality
all individuals: 1076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42950
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.913752913752914e-4
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.461538e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

GenotypeQuality
all individuals: 2441
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5921
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variant carriers: 0

GenotypeQuality
all individuals: 41580
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.722237160527024e-5
allele num: 14876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 5.448e0

QD
type: SiteQuality
SIO_000300: 1.105e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.444e6

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41243
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variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1883
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.362212232665849e-4
allele num: 14682
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.439299e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.12e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 40558
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.018528916339136e-5
allele num: 14248
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 1.430287e6

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.053e1

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 5809
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variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1871
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.129516687609182e-5
allele num: 65258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 1.924e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

DP
type: SiteQuality
SIO_000300: 1.408212e6

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540167570231641e-5
allele num: 64928
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.398606e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2409
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 38640
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.933989209774674e-5
allele num: 12604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54054720236628e-5
allele num: 64912
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.397838e6

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 5.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
all individuals: 2399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 1730
bin: 8.25e1
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 85

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 38555
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.369668246445498e-3
allele num: 844
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.386962552011096e-4
allele num: 64890
num of homozygotes: 0

South Asian
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allele count: 77
allele frequency: 6.139371711050869e-3
allele num: 12542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.512e1

DP
type: SiteQuality
SIO_000300: 1.399118e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-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
all individuals: 2503
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variant carriers: 28

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.471168670983657e-4
allele num: 64860
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12462
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.416e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.396333e6

GenotypeQuality
all individuals: 656
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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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.555403471660549e-4
allele num: 64292
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.703e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 1.379018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
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bin: 8.25e1
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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variant carriers: 1

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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556420233463035e-5
allele num: 64250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.271e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.378079e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: -2.761e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.677e0

QD
type: SiteQuality
SIO_000300: 4.63e0

MQ
type: SiteQuality
SIO_000300: 5.428e1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

GenotypeQuality
all individuals: 2326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64172
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

FS
type: SiteQuality
SIO_000300: 1.525e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.376815e6

GenotypeQuality
all individuals: 152
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
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variant carriers: 0

GenotypeQuality
all individuals: 1724
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36619
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GenotypeQuality
all individuals: 2501
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56011107990889e-5
allele num: 64098
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.377005e6

QD
type: SiteQuality
SIO_000300: 1.031e1

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 1900
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
all individuals: 1721
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559770401796856e-5
allele num: 64112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 1.37769e6

MQRankSum
type: SiteQuality
SIO_000300: -3.264e0

MQ
type: SiteQuality
SIO_000300: 5.533e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 3.836317e6

FS
type: SiteQuality
SIO_000300: 3.302e0

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
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bin: 8.25e1
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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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0418e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 3.837959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 10018
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East Asian
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allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64668
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

FS
type: SiteQuality
SIO_000300: 1.029e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.491e0

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
SIO_000300: 1.469e0

DP
type: SiteQuality
SIO_000300: 3.83987e6

QD
type: SiteQuality
SIO_000300: 1.524e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 21306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 2718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.087849312953528e-5
allele num: 64770
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 3.842027e6

MQRankSum
type: SiteQuality
SIO_000300: -1.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 5.855e0

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.715811240393815e-5
allele num: 64802
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.960159362549801e-5
allele num: 10040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 1.993e0

DP
type: SiteQuality
SIO_000300: 3.843262e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 2261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
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variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
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: 10064
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.328288707799767e-4
allele num: 8590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64884
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.065e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 2.594e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 3.847208e6

VQSLOD
type: SiteQuality
SIO_000300: -1.822e0

QD
type: SiteQuality
SIO_000300: 1.082e1

GenotypeQuality
all individuals: 615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.520790729379687e-5
allele num: 11736
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64954
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 3.849236e6

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 22046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

DP
type: SiteQuality
SIO_000300: 3.852647e6

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.831e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
all individuals: 1759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535343609899896e-5
allele num: 65132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12274
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.856684e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 9.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.875e0

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534636751480924e-5
allele num: 65162
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12350
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.599e1

FS
type: SiteQuality
SIO_000300: 4.028e0

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.857932e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
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GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
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GenotypeQuality
all individuals: 2280
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 1071
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.058291026974127e-5
allele num: 65396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.762e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.522e0

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.283e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 3.870652e6

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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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
all individuals: 1071
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GenotypeQuality
all individuals: 2125
bin: 2.25e1
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GenotypeQuality
all individuals: 18507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2751
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13778
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65564
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.877467e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

GenotypeQuality
all individuals: 2753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.202535292422933e-5
allele num: 13884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.257e0

QD
type: SiteQuality
SIO_000300: 9.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.878703e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.558300665511897e-5
allele num: 65814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 3.888597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: -1.209e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25009
bin: 6.25e1
variant carriers: 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: 10296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.560636303151274e-5
allele num: 66132
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 3.901537e6

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1808
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variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.432e0

QD
type: SiteQuality
SIO_000300: 9.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.344e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

FS
type: SiteQuality
SIO_000300: 2.806e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 3.909532e6

GenotypeQuality
all individuals: 1096
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1825
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 2842
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 18511
bin: 9.75e1
variant carriers: 3

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517528008673654e-5
allele num: 66408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.913324e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 18548
bin: 9.75e1
variant carriers: 100

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 2877
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.253876667868734e-4
allele num: 66552
num of homozygotes: 0

South Asian
type: Population
allele count: 84
allele frequency: 5.136358077534548e-3
allele num: 16354
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.329e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

DP
type: SiteQuality
SIO_000300: 3.923257e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.843e0

DP
type: SiteQuality
SIO_000300: 3.911642e6

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.638e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 5.966e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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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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variant carriers: 0

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

Other
type: Population
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allele num: 904
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 8
allele frequency: 7.695267410542517e-4
allele num: 10396
num of homozygotes: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.097e0

QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
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ReadPosRankSum
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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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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 3.914555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10402
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.995e0

VQSLOD
type: SiteQuality
SIO_000300: -1.689e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.390000000000001e0

QD
type: SiteQuality
SIO_000300: 1.796e1

DP
type: SiteQuality
SIO_000300: 3.915375e6

MQRankSum
type: SiteQuality
SIO_000300: -1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-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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variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e0

DP
type: SiteQuality
SIO_000300: 3.915159e6

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

FS
type: SiteQuality
SIO_000300: 5.801e0

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-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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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 3.914943e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

FS
type: SiteQuality
SIO_000300: 9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 2.885e1

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
all individuals: 2914
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 3.94079200307574e-3
allele num: 10404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.726e1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 3.915425e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.316e0

GenotypeQuality
all individuals: 26053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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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
all individuals: 10
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GenotypeQuality
all individuals: 2913
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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East Asian
type: Population
allele count: 20
allele frequency: 2.31107002542177e-3
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 3.915249e6

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 7.16e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4308
allele frequency: 4.140715109573241e-1
allele num: 10404
num of homozygotes: 899

European (Non-Finnish)
type: Population
allele count: 8036
allele frequency: 1.204364246747797e-1
allele num: 66724
num of homozygotes: 504

Latino
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allele count: 2119
allele frequency: 1.83019519778891e-1
allele num: 11578
num of homozygotes: 201

East Asian
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allele count: 1165
allele frequency: 1.347443904695813e-1
allele num: 8646
num of homozygotes: 73

South Asian
type: Population
allele count: 3167
allele frequency: 1.918231374924288e-1
allele num: 16510
num of homozygotes: 326

Other
type: Population
allele count: 136
allele frequency: 1.497797356828194e-1
allele num: 908
num of homozygotes: 12

European (Finnish)
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allele count: 357
allele frequency: 5.397641366797702e-2
allele num: 6614
num of homozygotes: 15

FS
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.94e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.873e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 4.05146e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.687e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-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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South Asian
type: Population
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.868215e6

FS
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
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SIO_000300: 1.47e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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East Asian
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South Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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allele num: 6614
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Other
type: Population
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allele num: 908
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.24e-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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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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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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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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VQSLOD
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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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Other
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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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European (Finnish)
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num of homozygotes: 0

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

Latino
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European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
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European (Finnish)
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.029e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 4.856e0

DP
type: SiteQuality
SIO_000300: 1.865966e6

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeQuality
all individuals: 5766
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3044
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9114
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.887e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

QD
type: SiteQuality
SIO_000300: 8.84e0

DP
type: SiteQuality
SIO_000300: 1.865766e6

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1