4-40434742-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434742
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434742
    reference: chr 4
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.207G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1261G>C
  hgvsp: ENSP00000371214.6:p.Ala421Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1354G>C
  hgvsp: ENSP00000423243.1:p.Ala452Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1468G>C
  hgvsp: ENSP00000371212.2:p.Ala490Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1468G>C
  hgvsp: ENSP00000295971.7:p.Ala490Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*524G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1261G>C
  hgvsp: ENSP00000320108.4:p.Ala421Pro
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala490Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-40434743-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434743
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434743
    reference: chr 4
allele count: 1
allele frequency: 8.352544184958738e-6
allele num: 119724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1260T>A
  hgvsp: ENST00000381795.6:c.1260T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1353T>A
  hgvsp: ENST00000514014.1:c.1353T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1467T>A
  hgvsp: ENST00000381793.2:c.1467T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*523T>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1467T>A
  hgvsp: ENST00000295971.7:c.1467T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.206T>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1260T>A
  hgvsp: ENST00000319592.4:c.1260T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala489Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-40434746-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434746
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434745
    reference: chr 4
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1256delG
  hgvsp: ENSP00000371214.6:p.Ser419MetfsTer31
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1256delG
  hgvsp: ENSP00000320108.4:p.Ser419MetfsTer31
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.202delG
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1349delG
  hgvsp: ENSP00000423243.1:p.Ser450MetfsTer31
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1463delG
  hgvsp: ENSP00000371212.2:p.Ser488MetfsTer31
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*519delG
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1463delG
  hgvsp: ENSP00000295971.7:p.Ser488MetfsTer31
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser488MetfsTer31
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: AC
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

4-40434753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434753
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434753
    reference: chr 4
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*513C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1343C>T
  hgvsp: ENSP00000423243.1:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1250C>T
  hgvsp: ENSP00000371214.6:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.196C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1250C>T
  hgvsp: ENSP00000320108.4:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1457C>T
  hgvsp: ENSP00000371212.2:p.Pro486Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1457C>T
  hgvsp: ENSP00000295971.7:p.Pro486Leu
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro486Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

4-40434756-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434756
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434756
    reference: chr 4
allele count: 1
allele frequency: 8.367360599772408e-6
allele num: 119512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1247A>G
  hgvsp: ENSP00000320108.4:p.Asp416Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1247A>G
  hgvsp: ENSP00000371214.6:p.Asp416Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1454A>G
  hgvsp: ENSP00000371212.2:p.Asp485Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1340A>G
  hgvsp: ENSP00000423243.1:p.Asp447Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*510A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1454A>G
  hgvsp: ENSP00000295971.7:p.Asp485Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.193A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15286
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp485Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

4-40434758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434758
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434758
    reference: chr 4
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1245A>G
  hgvsp: ENST00000319592.4:c.1245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*508A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.191A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1452A>G
  hgvsp: ENST00000295971.7:c.1452A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1245A>G
  hgvsp: ENST00000381795.6:c.1245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1338A>G
  hgvsp: ENST00000514014.1:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1452A>G
  hgvsp: ENST00000381793.2:c.1452A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro484Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

4-40434765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434765
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434765
    reference: chr 4
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1238T>C
  hgvsp: ENSP00000371214.6:p.Val413Ala
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*501T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1331T>C
  hgvsp: ENSP00000423243.1:p.Val444Ala
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1238T>C
  hgvsp: ENSP00000320108.4:p.Val413Ala
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.184T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1445T>C
  hgvsp: ENSP00000295971.7:p.Val482Ala
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1445T>C
  hgvsp: ENSP00000371212.2:p.Val482Ala
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val482Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

4-40434766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434766
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434766
    reference: chr 4
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1330G>A
  hgvsp: ENSP00000423243.1:p.Val444Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1444G>A
  hgvsp: ENSP00000295971.7:p.Val482Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1444G>A
  hgvsp: ENSP00000371212.2:p.Val482Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1237G>A
  hgvsp: ENSP00000371214.6:p.Val413Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1237G>A
  hgvsp: ENSP00000320108.4:p.Val413Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*500G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.183G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17986
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val482Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

4-40434770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434770
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434770
    reference: chr 4
allele count: 2
allele frequency: 1.667695078631823e-5
allele num: 119926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1233T>C
  hgvsp: ENST00000319592.4:c.1233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.179T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1326T>C
  hgvsp: ENST00000514014.1:c.1326T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1440T>C
  hgvsp: ENST00000381793.2:c.1440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*496T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1233T>C
  hgvsp: ENST00000381795.6:c.1233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1440T>C
  hgvsp: ENST00000295971.7:c.1440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile480Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

4-40434771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434771
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434771
    reference: chr 4
allele count: 5
allele frequency: 4.16930722791101e-5
allele num: 119924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1325T>C
  hgvsp: ENSP00000423243.1:p.Ile442Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1439T>C
  hgvsp: ENSP00000295971.7:p.Ile480Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*495T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1232T>C
  hgvsp: ENSP00000371214.6:p.Ile411Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1232T>C
  hgvsp: ENSP00000320108.4:p.Ile411Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.178T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1439T>C
  hgvsp: ENSP00000371212.2:p.Ile480Thr
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15495
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17600
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile480Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

4-40434771-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434771
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434771
    reference: chr 4
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*495T>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1439T>A
  hgvsp: ENSP00000295971.7:p.Ile480Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1325T>A
  hgvsp: ENSP00000423243.1:p.Ile442Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.178T>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1439T>A
  hgvsp: ENSP00000371212.2:p.Ile480Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1232T>A
  hgvsp: ENSP00000320108.4:p.Ile411Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1232T>A
  hgvsp: ENSP00000371214.6:p.Ile411Asn
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile480Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

4-40434772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434772
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434772
    reference: chr 4
allele count: 2
allele frequency: 1.66741700431861e-5
allele num: 119946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1324A>G
  hgvsp: ENSP00000423243.1:p.Ile442Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1438A>G
  hgvsp: ENSP00000371212.2:p.Ile480Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1231A>G
  hgvsp: ENSP00000320108.4:p.Ile411Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1231A>G
  hgvsp: ENSP00000371214.6:p.Ile411Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1438A>G
  hgvsp: ENSP00000295971.7:p.Ile480Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*494A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.177A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15489
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7418
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile480Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

4-40434775-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434775
    reference: chr 4
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1321C>A
  hgvsp: ENSP00000423243.1:p.Pro441Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1435C>A
  hgvsp: ENSP00000295971.7:p.Pro479Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*491C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1228C>A
  hgvsp: ENSP00000320108.4:p.Pro410Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1435C>A
  hgvsp: ENSP00000371212.2:p.Pro479Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.174C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1228C>A
  hgvsp: ENSP00000371214.6:p.Pro410Thr
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro479Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-40434779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434779
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434779
    reference: chr 4
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1431C>A
  hgvsp: ENST00000381793.2:c.1431C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1224C>A
  hgvsp: ENST00000319592.4:c.1224C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1431C>A
  hgvsp: ENST00000295971.7:c.1431C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1224C>A
  hgvsp: ENST00000381795.6:c.1224C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.170C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1317C>A
  hgvsp: ENST00000514014.1:c.1317C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*487C>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile477Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-40434781-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434781
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434781
    reference: chr 4
allele count: 48
allele frequency: 3.999200159968006e-4
allele num: 120024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1222A>G
  hgvsp: ENSP00000320108.4:p.Ile408Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1429A>G
  hgvsp: ENSP00000295971.7:p.Ile477Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1222A>G
  hgvsp: ENSP00000371214.6:p.Ile408Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.168A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1429A>G
  hgvsp: ENSP00000371212.2:p.Ile477Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1315A>G
  hgvsp: ENSP00000423243.1:p.Ile439Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*485A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15513
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile477Val
num of homozygotes: 1
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-40434784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434784
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434784
    reference: chr 4
allele count: 6
allele frequency: 4.998833605492052e-5
allele num: 120028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1426A>G
  hgvsp: ENSP00000295971.7:p.Met476Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1426A>G
  hgvsp: ENSP00000371212.2:p.Met476Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*482A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1219A>G
  hgvsp: ENSP00000320108.4:p.Met407Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.165A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1312A>G
  hgvsp: ENSP00000423243.1:p.Met438Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1219A>G
  hgvsp: ENSP00000371214.6:p.Met407Val
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met476Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

4-40434789-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434789
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434789
    reference: chr 4
allele count: 2
allele frequency: 1.665084836072398e-5
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1421A>G
  hgvsp: ENSP00000371212.2:p.Glu474Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.160A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1214A>G
  hgvsp: ENSP00000371214.6:p.Glu405Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*477A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1214A>G
  hgvsp: ENSP00000320108.4:p.Glu405Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1421A>G
  hgvsp: ENSP00000295971.7:p.Glu474Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1307A>G
  hgvsp: ENSP00000423243.1:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu474Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

4-40434829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434829
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434829
    reference: chr 4
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1381G>A
  hgvsp: ENSP00000371212.2:p.Ala461Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1174G>A
  hgvsp: ENSP00000371214.6:p.Ala392Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1381G>A
  hgvsp: ENSP00000295971.7:p.Ala461Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.120G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*437G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1174G>A
  hgvsp: ENSP00000320108.4:p.Ala392Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1267G>A
  hgvsp: ENSP00000423243.1:p.Ala423Thr
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala461Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

4-40434834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434834
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434834
    reference: chr 4
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1376C>T
  hgvsp: ENSP00000295971.7:p.Ala459Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1262C>T
  hgvsp: ENSP00000423243.1:p.Ala421Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1169C>T
  hgvsp: ENSP00000371214.6:p.Ala390Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1169C>T
  hgvsp: ENSP00000320108.4:p.Ala390Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1376C>T
  hgvsp: ENSP00000371212.2:p.Ala459Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*432C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.115C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala459Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

4-40434850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434850
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434850
    reference: chr 4
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1153T>C
  hgvsp: ENSP00000371214.6:p.Ser385Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*416T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1153T>C
  hgvsp: ENSP00000320108.4:p.Ser385Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.99T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1360T>C
  hgvsp: ENSP00000295971.7:p.Ser454Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1360T>C
  hgvsp: ENSP00000371212.2:p.Ser454Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1246T>C
  hgvsp: ENSP00000423243.1:p.Ser416Pro
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser454Pro
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

4-40434854-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434854
    reference: chr 4
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1356G>C
  hgvsp: ENSP00000371212.2:p.Gln452His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1356G>C
  hgvsp: ENSP00000295971.7:p.Gln452His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1242G>C
  hgvsp: ENSP00000423243.1:p.Gln414His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.95G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*412G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1149G>C
  hgvsp: ENSP00000320108.4:p.Gln383His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1149G>C
  hgvsp: ENSP00000371214.6:p.Gln383His
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21497
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln452His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-40434855-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434855
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434855
    reference: chr 4
allele count: 330
allele frequency: 2.723221653738241e-3
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.94A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1355A>C
  hgvsp: ENSP00000295971.7:p.Gln452Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1148A>C
  hgvsp: ENSP00000320108.4:p.Gln383Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1148A>C
  hgvsp: ENSP00000371214.6:p.Gln383Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1355A>C
  hgvsp: ENSP00000371212.2:p.Gln452Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1241A>C
  hgvsp: ENSP00000423243.1:p.Gln414Pro
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*411A>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 15732
  bin: 9.75e1
  variant carriers: 324
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln452Pro
num of homozygotes: 4
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-40434858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434858
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434858
    reference: chr 4
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1145C>T
  hgvsp: ENSP00000371214.6:p.Ala382Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1145C>T
  hgvsp: ENSP00000320108.4:p.Ala382Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1352C>T
  hgvsp: ENSP00000295971.7:p.Ala451Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.91C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1238C>T
  hgvsp: ENSP00000423243.1:p.Ala413Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1352C>T
  hgvsp: ENSP00000371212.2:p.Ala451Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*408C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala451Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-40434859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434859
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434859
    reference: chr 4
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*407G>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1237G>T
  hgvsp: ENSP00000423243.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1351G>T
  hgvsp: ENSP00000371212.2:p.Ala451Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1351G>T
  hgvsp: ENSP00000295971.7:p.Ala451Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.90G>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1144G>T
  hgvsp: ENSP00000320108.4:p.Ala382Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1144G>T
  hgvsp: ENSP00000371214.6:p.Ala382Ser
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala451Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

4-40434863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434863
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434863
    reference: chr 4
allele count: 1146
allele frequency: 9.456693952997095e-3
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1233T>C
  hgvsp: ENST00000514014.1:c.1233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1347T>C
  hgvsp: ENST00000295971.7:c.1347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1140T>C
  hgvsp: ENST00000381795.6:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.86T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1347T>C
  hgvsp: ENST00000381793.2:c.1347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1140T>C
  hgvsp: ENST00000319592.4:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*403T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 2.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 3.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 9.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 5.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 9.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16494
  bin: 9.75e1
  variant carriers: 1054
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile449Ile
num of homozygotes: 72
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

4-40434864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434864
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434864
    reference: chr 4
allele count: 11
allele frequency: 9.077705156136529e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1139T>C
  hgvsp: ENSP00000371214.6:p.Ile380Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1232T>C
  hgvsp: ENSP00000423243.1:p.Ile411Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*402T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1346T>C
  hgvsp: ENSP00000371212.2:p.Ile449Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1139T>C
  hgvsp: ENSP00000320108.4:p.Ile380Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1346T>C
  hgvsp: ENSP00000295971.7:p.Ile449Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.85T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15967
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile449Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-40434886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434886
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434886
    reference: chr 4
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1124-7C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1124-7C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1331-7C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*387-7C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-7C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1217-7C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1331-7C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1331-7C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

4-40434902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434902
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434902
    reference: chr 4
allele count: 4
allele frequency: 3.301910155024682e-5
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-23T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1217-23T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*387-23T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1124-23T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1331-23T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1124-23T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1331-23T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-40434924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434924
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434924
    reference: chr 4
allele count: 164
allele frequency: 1.355237497107725e-3
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1124-45G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1331-45G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*387-45G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1331-45G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-45G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1124-45G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1217-45G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

4-40434925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434925
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434925
    reference: chr 4
allele count: 9
allele frequency: 7.440476190476191e-5
allele num: 120960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1124-46C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1331-46C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1217-46C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*387-46C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1331-46C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-46C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1124-46C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-40434931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40434931
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40434931
    reference: chr 4
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*387-52A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1217-52A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1124-52A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1331-52A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1124-52A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1331-52A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-52A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

4-40438415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438415
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438415
    reference: chr 4
allele count: 2
allele frequency: 1.670648378635748e-5
allele num: 119714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1330+43C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1373C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3536C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1373C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*386+43C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1216+43C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1330+43C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-40438422-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438422
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438422
    reference: chr 4
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1330+36G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1216+36G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*386+36G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1366G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1330+36G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1366G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3543G>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

4-40438440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438440
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438440
    reference: chr 4
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3561T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1348T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1330+18T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1330+18T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1348T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*386+18T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1216+18T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50798
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-40438444-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438444
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438444
    reference: chr 4
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1330+14A>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1344A>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*386+14A>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3565A>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1330+14A>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1216+14A>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1344A>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

4-40438455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438455
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438455
    reference: chr 4
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1330+3C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1216+3C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*386+3C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3576C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1333C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1333C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1330+3C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1330+3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

4-40438457-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438457
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438457
    reference: chr 4
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*386+1G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1331G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3578G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1330+1G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1331G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1216+1G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1330+1G>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50823
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1330+1G>C
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

4-40438473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438473
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438473
    reference: chr 4
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3594A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1315A>G
  hgvsp: ENSP00000295971.7:p.Ile439Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1315A>G
  hgvsp: ENSP00000371212.2:p.Ile439Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1201A>G
  hgvsp: ENSP00000423243.1:p.Ile401Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*371A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1315A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1315A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile439Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

4-40438474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438474
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438474
    reference: chr 4
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1200C>T
  hgvsp: ENST00000514014.1:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*370C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1314C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1314C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1314C>T
  hgvsp: ENST00000295971.7:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1314C>T
  hgvsp: ENST00000381793.2:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3595C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala438Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

4-40438483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438483
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438483
    reference: chr 4
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1305C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*361C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1305C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1305C>T
  hgvsp: ENST00000381793.2:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3604C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1191C>T
  hgvsp: ENST00000514014.1:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1305C>T
  hgvsp: ENST00000295971.7:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn435Asn
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

4-40438488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438488
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438488
    reference: chr 4
allele count: 11
allele frequency: 9.108825623954555e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1186G>A
  hgvsp: ENSP00000423243.1:p.Val396Ile
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1300G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1300G>A
  hgvsp: ENSP00000371212.2:p.Val434Ile
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*356G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1300G>A
  hgvsp: ENSP00000295971.7:p.Val434Ile
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1300G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3609G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50847
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val434Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

4-40438489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438489
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438489
    reference: chr 4
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1299C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1299C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1299C>T
  hgvsp: ENST00000381793.2:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3610C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1299C>T
  hgvsp: ENST00000295971.7:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1185C>T
  hgvsp: ENST00000514014.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr433Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

4-40438495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438495
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438495
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1293C>T
  hgvsp: ENST00000295971.7:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1179C>T
  hgvsp: ENST00000514014.1:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1293C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1293C>T
  hgvsp: ENST00000381793.2:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3616C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1293C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*349C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile431Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

4-40438506-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438506
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438506
    reference: chr 4
allele count: 3
allele frequency: 2.484142887898912e-5
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1282A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1282A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1168A>C
  hgvsp: ENSP00000423243.1:p.Asn390His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1282A>C
  hgvsp: ENSP00000295971.7:p.Asn428His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3627A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1282A>C
  hgvsp: ENSP00000371212.2:p.Asn428His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*338A>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn428His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-40438507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438507
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438507
    reference: chr 4
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1281G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1281G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3628G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1281G>A
  hgvsp: ENST00000295971.7:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1167G>A
  hgvsp: ENST00000514014.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1281G>A
  hgvsp: ENST00000381793.2:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*337G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50851
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro427Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

4-40438508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438508
    reference: chr 4
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1280C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1280C>T
  hgvsp: ENSP00000371212.2:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1166C>T
  hgvsp: ENSP00000423243.1:p.Pro389Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1280C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3629C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1280C>T
  hgvsp: ENSP00000295971.7:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*336C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro427Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

4-40438515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438515
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438515
    reference: chr 4
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1159C>T
  hgvsp: ENST00000514014.1:c.1159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1273C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3636C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1273C>T
  hgvsp: ENST00000381793.2:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1273C>T
  hgvsp: ENST00000295971.7:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1273C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*329C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu425Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-40438521-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438521
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438521
    reference: chr 4
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*323T>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1267T>G
  hgvsp: ENSP00000371212.2:p.Tyr423Asp
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1267T>G
  hgvsp: ENSP00000295971.7:p.Tyr423Asp
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1267T>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1153T>G
  hgvsp: ENSP00000423243.1:p.Tyr385Asp
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1267T>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3642T>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50852
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr423Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

4-40438531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438531
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438531
    reference: chr 4
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3652A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1257A>G
  hgvsp: ENST00000295971.7:c.1257A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1143A>G
  hgvsp: ENST00000514014.1:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1257A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1257A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1257A>G
  hgvsp: ENST00000381793.2:c.1257A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*313A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50852
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln419Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-40438554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438554
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438554
    reference: chr 4
allele count: 8
allele frequency: 6.624161629543761e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3675C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*290C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1120C>A
  hgvsp: ENSP00000423243.1:p.His374Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1234C>A
  hgvsp: ENSP00000371212.2:p.His412Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1234C>A
  hgvsp: ENSP00000295971.7:p.His412Asn
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1234C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1234C>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His412Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

4-40438558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438558
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438558
    reference: chr 4
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*286A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1230A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1230A>G
  hgvsp: ENST00000381793.2:c.1230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1230A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3679A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1230A>G
  hgvsp: ENST00000295971.7:c.1230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1116A>G
  hgvsp: ENST00000514014.1:c.1116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg410Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/4-40438562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438562
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438562
    reference: chr 4
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*282G>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1226G>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1226G>T
  hgvsp: ENSP00000371212.2:p.Ser409Ile
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1112G>T
  hgvsp: ENSP00000423243.1:p.Ser371Ile
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3683G>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1226G>T
  hgvsp: ENSP00000295971.7:p.Ser409Ile
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1226G>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser409Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-40438570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438570
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438570
    reference: chr 4
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1218T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1218T>C
  hgvsp: ENST00000381793.2:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1218T>C
  hgvsp: ENST00000295971.7:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1218T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1104T>C
  hgvsp: ENST00000514014.1:c.1104T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3691T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*274T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly406Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

4-40438571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438571
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438571
    reference: chr 4
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*273G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3692G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1217G>A
  hgvsp: ENSP00000371212.2:p.Gly406Asp
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1217G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1217G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1217G>A
  hgvsp: ENSP00000295971.7:p.Gly406Asp
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1103G>A
  hgvsp: ENSP00000423243.1:p.Gly368Asp
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly406Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-40438574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438574
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438574
    reference: chr 4
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1214G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1214G>A
  hgvsp: ENSP00000371212.2:p.Arg405His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*270G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3695G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1100G>A
  hgvsp: ENSP00000423243.1:p.Arg367His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1214G>A
  hgvsp: ENSP00000295971.7:p.Arg405His
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1214G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg405His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

4-40438576-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438576
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438576
    reference: chr 4
allele count: 103059
allele frequency: 8.533776062799132e-1
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1212T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1098T>C
  hgvsp: ENST00000514014.1:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3697T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1212T>C
  hgvsp: ENST00000381793.2:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1212T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1212T>C
  hgvsp: ENST00000295971.7:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*268T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54686
  bin: 9.75e1
  variant carriers: 54622
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.25e1
  variant carriers: 562
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59969
  bin: 9.75e1
  variant carriers: 58883
hgvs: p.Gly404Gly
num of homozygotes: 44115
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

4-40438581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438581
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438581
    reference: chr 4
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1207G>A
  hgvsp: ENSP00000295971.7:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*263G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1207G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1093G>A
  hgvsp: ENSP00000423243.1:p.Ala365Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1207G>A
  hgvsp: ENSP00000371212.2:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3702G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1207G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala403Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-40438593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438593
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438593
    reference: chr 4
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1195G>A
  hgvsp: ENSP00000295971.7:p.Gly399Arg
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1195G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1081G>A
  hgvsp: ENSP00000423243.1:p.Gly361Arg
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1195G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3714G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1195G>A
  hgvsp: ENSP00000371212.2:p.Gly399Arg
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly399Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-40438594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438594
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438594
    reference: chr 4
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1080C>T
  hgvsp: ENST00000514014.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*250C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1194C>T
  hgvsp: ENST00000381793.2:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1194C>T
  hgvsp: ENST00000295971.7:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1194C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1194C>T
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3715C>T
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7893
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu398Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

4-40438606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438606
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438606
    reference: chr 4
allele count: 3
allele frequency: 2.484595507851322e-5
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1182G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1068G>A
  hgvsp: ENST00000514014.1:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1182G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1182G>A
  hgvsp: ENST00000295971.7:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3727G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1182G>A
  hgvsp: ENST00000381793.2:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg394Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-40438615-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438615
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438615
    reference: chr 4
allele count: 6
allele frequency: 4.969602597445624e-5
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1173A>G
  hgvsp: ENST00000381793.2:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1173A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1059A>G
  hgvsp: ENST00000514014.1:c.1059A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1173A>G
  hgvsp: ENST00000295971.7:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3736A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*229A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1173A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro391Pro
num of homozygotes: 1
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

4-40438622-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438622
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438622
    reference: chr 4
allele count: 5
allele frequency: 4.142433431094762e-5
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1166G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1166G>C
  hgvsp: ENSP00000371212.2:p.Arg389Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1052G>C
  hgvsp: ENSP00000423243.1:p.Arg351Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*222G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1166G>C
  hgvsp: ENSP00000295971.7:p.Arg389Thr
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3743G>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1166G>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg389Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

4-40438624-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438624
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438624
    reference: chr 4
allele count: 4
allele frequency: 3.31389183457052e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1164C>A
  hgvsp: ENSP00000295971.7:p.Asn388Lys
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3745C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1164C>A
  hgvsp: ENSP00000371212.2:p.Asn388Lys
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*220C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1164C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1164C>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1050C>A
  hgvsp: ENSP00000423243.1:p.Asn350Lys
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn388Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

4-40438627-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438627
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438627
    reference: chr 4
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1161C>G
  hgvsp: ENST00000295971.7:c.1161C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1161C>G
  hgvsp: ENST00000381793.2:c.1161C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1161C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1161C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*217C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3748C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1047C>G
  hgvsp: ENST00000514014.1:c.1047C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41504
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly387Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

4-40438629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438629
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438629
    reference: chr 4
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1045G>A
  hgvsp: ENSP00000423243.1:p.Gly349Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3750G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1159G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1159G>A
  hgvsp: ENSP00000295971.7:p.Gly387Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1159G>A
  hgvsp: ENSP00000371212.2:p.Gly387Ser
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1159G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly387Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-40438640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438640
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438640
    reference: chr 4
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1148G>A
  hgvsp: ENSP00000371212.2:p.Arg383Gln
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*204G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1034G>A
  hgvsp: ENSP00000423243.1:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3761G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1148G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1148G>A
  hgvsp: ENSP00000295971.7:p.Arg383Gln
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1148G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7685
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg383Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

4-40438645-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438645
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438645
    reference: chr 4
allele count: 3
allele frequency: 2.489296027083541e-5
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1143A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1143A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1143A>C
  hgvsp: ENST00000381793.2:c.1143A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3766A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1029A>C
  hgvsp: ENST00000514014.1:c.1029A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*199A>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1143A>C
  hgvsp: ENST00000295971.7:c.1143A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41499
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg381Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

4-40438646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438646
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438646
    reference: chr 4
allele count: 2
allele frequency: 1.659723490066555e-5
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1142G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1142G>A
  hgvsp: ENSP00000371212.2:p.Arg381Gln
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1028G>A
  hgvsp: ENSP00000423243.1:p.Arg343Gln
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3767G>A
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1142G>A
  hgvsp: ENSP00000295971.7:p.Arg381Gln
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1142G>A
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg381Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

4-40438647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438647
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438647
    reference: chr 4
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1141C>G
  hgvsp: ENSP00000371212.2:p.Arg381Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*197C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1027C>G
  hgvsp: ENSP00000423243.1:p.Arg343Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1141C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1141C>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1141C>G
  hgvsp: ENSP00000295971.7:p.Arg381Gly
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3768C>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg381Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

4-40438654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438654
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438654
    reference: chr 4
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1134A>G
  hgvsp: ENSP00000295971.7:p.Ile378Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1134A>G
  hgvsp: ENSP00000371212.2:p.Ile378Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1134A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1020A>G
  hgvsp: ENSP00000423243.1:p.Ile340Met
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3775A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1134A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41491
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile378Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

4-40438656-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438656
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438656
    reference: chr 4
allele count: 2
allele frequency: 1.661957786272229e-5
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1132A>G
  hgvsp: ENSP00000295971.7:p.Ile378Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1132A>G
  hgvsp: ENSP00000371212.2:p.Ile378Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*188A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1132A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1018A>G
  hgvsp: ENSP00000423243.1:p.Ile340Val
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1132A>G
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3777A>G
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile378Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-40438671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40438671
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 40438671
    reference: chr 4
allele count: 11
allele frequency: 9.157661632727817e-5
allele num: 120118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000423243
  ensembl transcript: ENST00000514014
  gene symbol: RBM47
  hgvsc: ENST00000514014.1:c.1010-7T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000422945
  ensembl transcript: ENST00000510871
  gene symbol: RBM47
  hgvsc: ENST00000510871.1:c.*173T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371214
  ensembl transcript: ENST00000381795
  gene symbol: RBM47
  hgvsc: ENST00000381795.6:c.1123+1117T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000320108
  ensembl transcript: ENST00000319592
  gene symbol: RBM47
  hgvsc: ENST00000319592.4:c.1123+1117T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl transcript: ENST00000515809
  gene symbol: RBM47
  hgvsc: ENST00000515809.1:n.70-3792T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000295971
  ensembl transcript: ENST00000295971
  gene symbol: RBM47
  hgvsc: ENST00000295971.7:c.1124-7T>C
  variant of: http://identifiers.org/hgnc/30358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163694
  ensembl protein: ENSP00000371212
  ensembl transcript: ENST00000381793
  gene symbol: RBM47
  hgvsc: ENST00000381793.2:c.1124-7T>C
  variant of: http://identifiers.org/hgnc/30358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1124-7T>C
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 8176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15529
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523693432881304e-5
allele num: 65630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.342706e6

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 4.506e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.808e0

VQSLOD
type: SiteQuality
SIO_000300: -5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
all individuals: 15529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17954
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.356e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

DP
type: SiteQuality
SIO_000300: 2.34189e6

MQRankSum
type: SiteQuality
SIO_000300: -2.916e0

FS
type: SiteQuality
SIO_000300: 4.783e0

QD
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.951e0

GenotypeQuality
all individuals: 1461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15525
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 2.339179e6

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.44e1

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15525
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65740
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.658e0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.32878e6

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
all individuals: 1355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.189343482397717e-4
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -2.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 3.137e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 4.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.623e0

DP
type: SiteQuality
SIO_000300: 2.326543e6

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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: 8420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52077376969402e-5
allele num: 65756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

FS
type: SiteQuality
SIO_000300: 1.588e0

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 2.321609e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.458e1

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

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15491
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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: 8414
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 1.0964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.715e0

DP
type: SiteQuality
SIO_000300: 2.316078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 738
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15489
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189060642092747e-4
allele num: 8410
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

FS
type: SiteQuality
SIO_000300: 4.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.087e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 2.315251e6

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15491
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519803033526855e-5
allele num: 65798
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: 8414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.296e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 1.497e0

DP
type: SiteQuality
SIO_000300: 2.31053e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

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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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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.035822707953856e-4
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.039698461912578e-5
allele num: 65796
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.161e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

FS
type: SiteQuality
SIO_000300: 2.539e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 2.309957e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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: 1
allele frequency: 1.188777936281503e-4
allele num: 8412
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 2.539e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
type: SiteQuality
SIO_000300: 2.309957e6

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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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: 3369
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GenotypeQuality
all individuals: 3924
bin: 7.75e1
variant carriers: 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: 8416
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038590094196293e-5
allele num: 65820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.12e-1

FS
type: SiteQuality
SIO_000300: 8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.401e0

DP
type: SiteQuality
SIO_000300: 2.310236e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.774e1

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15490
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7347
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65830
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.307198e6

VQSLOD
type: SiteQuality
SIO_000300: -1.676e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
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variant carriers: 0

GenotypeQuality
all individuals: 853
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7329
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variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.305753e6

QD
type: SiteQuality
SIO_000300: 1.124e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 537
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GenotypeQuality
all individuals: 3865
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
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: 2
allele frequency: 3.035361966914554e-5
allele num: 65890
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 2.792617775619233e-3
allele num: 16472
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 2.305551e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.106362311801845e-5
allele num: 65888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.301446e6

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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1261
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

FS
type: SiteQuality
SIO_000300: 1.4804e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.303046e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.616e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.323152e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.747e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 271
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7273
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.245e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.325667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
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GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.784e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 2.330747e6

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2314
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.13e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.331144e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.47e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

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

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2311
bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7350
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21268
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variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 325
allele frequency: 1.973284760170006e-2
allele num: 16470
num of homozygotes: 4

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.340993e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
all individuals: 3489
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 7354
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3277
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variant carriers: 0

GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 15605
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.03e-2

DP
type: SiteQuality
SIO_000300: 2.335812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15605
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 21363
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GenotypeQuality
all individuals: 2313
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 7352
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variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.065e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

FS
type: SiteQuality
SIO_000300: 5.52e-1

DP
type: SiteQuality
SIO_000300: 2.336261e6

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 1716
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GenotypeQuality
all individuals: 3408
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 20547
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4009
bin: 7.75e1
variant carriers: 3

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

Latino
type: Population
allele count: 44
allele frequency: 3.813485872768244e-3
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800882432391872e-4
allele num: 66634
num of homozygotes: 0

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

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

African
type: Population
allele count: 1087
allele frequency: 1.046802773497689e-1
allele num: 10384
num of homozygotes: 72

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.067e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

DP
type: SiteQuality
SIO_000300: 2.373503e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
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GenotypeQuality
all individuals: 7225
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GenotypeQuality
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GenotypeQuality
all individuals: 2325
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 537
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GenotypeQuality
all individuals: 1751
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GenotypeQuality
all individuals: 20366
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.428658166363084e-4
allele num: 16470
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.004952723998198e-5
allele num: 66630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 2.349536e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 7305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 4108
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 21481
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GenotypeQuality
all individuals: 1754
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 3293
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.38e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

FS
type: SiteQuality
SIO_000300: 2.422e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.76e0

QD
type: SiteQuality
SIO_000300: 1.021e1

DP
type: SiteQuality
SIO_000300: 2.350611e6

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 7293
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 3289
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GenotypeQuality
all individuals: 311
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GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 20847
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GenotypeQuality
all individuals: 16025
bin: 9.75e1
variant carriers: 4

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

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 3.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 2.344773e6

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
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bin: 5.25e1
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
all individuals: 16149
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variant carriers: 164

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 145
allele frequency: 2.179467909213889e-3
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.514692517418964e-3
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.862495171881035e-4
allele num: 10356
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.396e1

DP
type: SiteQuality
SIO_000300: 2.326028e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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
type: Population
allele count: 4
allele frequency: 2.4330900243309e-4
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.474635163307853e-4
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

FS
type: SiteQuality
SIO_000300: 2.899e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.324181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

DP
type: SiteQuality
SIO_000300: 2.323336e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.295e0

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50778
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 765
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variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
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: 15768
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.428e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

DP
type: SiteQuality
SIO_000300: 3.530156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 536
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GenotypeQuality
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GenotypeQuality
all individuals: 317
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2582
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GenotypeQuality
all individuals: 1052
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
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: -1.672e0

VQSLOD
type: SiteQuality
SIO_000300: -1.287e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 3.537915e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.84e-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
all individuals: 595
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
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: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.55552e6

QD
type: SiteQuality
SIO_000300: 1.058e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -5.01e-2

FS
type: SiteQuality
SIO_000300: 3.593e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.386e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 896
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.414e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 3.558058e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

GenotypeQuality
all individuals: 1104
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.352e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

DP
type: SiteQuality
SIO_000300: 3.564105e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.043e0

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
all individuals: 26
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 986
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

DP
type: SiteQuality
SIO_000300: 3.564834e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 50835
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

QD
type: SiteQuality
SIO_000300: 1.573e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

FS
type: SiteQuality
SIO_000300: 1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 3.567444e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 1021
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50837
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 629
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 6.18e-1

DP
type: SiteQuality
SIO_000300: 3.567589e6

QD
type: SiteQuality
SIO_000300: 9.93e0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1219
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50845
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 3.568644e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.886e0

GenotypeQuality
all individuals: 3813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 9.181799632728015e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: -7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.569682e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50849
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 3.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 3.569758e6

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

GenotypeQuality
all individuals: 3813
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50849
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.22e-1

DP
type: SiteQuality
SIO_000300: 3.569989e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.362e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 6.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

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

GenotypeQuality
all individuals: 1133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50850
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 8.25e1
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: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.555e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

FS
type: SiteQuality
SIO_000300: 8.676e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.17e0

QD
type: SiteQuality
SIO_000300: 1.656e1

DP
type: SiteQuality
SIO_000300: 3.570512e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

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

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

GenotypeQuality
all individuals: 1132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 0
bin: 5.75e1
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: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.399e0

DP
type: SiteQuality
SIO_000300: 3.570438e6

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

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 3.570506e6

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

GenotypeQuality
all individuals: 50852
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1034
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 990
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variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Other
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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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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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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European (Finnish)
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South Asian
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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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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GenotypeQuality
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African
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allele frequency: 7.404611303815548e-1
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66736
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European (Finnish)
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allele num: 6614
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South Asian
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allele frequency: 8.885658914728682e-1
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Other
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allele frequency: 8.366666666666667e-1
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.37e-2

DP
type: SiteQuality
SIO_000300: 1.4445268e7

QD
type: SiteQuality
SIO_000300: 2.882e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.183659e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 2.143e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

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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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: 2
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variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

QD
type: SiteQuality
SIO_000300: 2.323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.8184e1

VQSLOD
type: SiteQuality
SIO_000300: -2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

DP
type: SiteQuality
SIO_000300: 3.18308e6

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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 2.861e1

FS
type: SiteQuality
SIO_000300: 2.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

DP
type: SiteQuality
SIO_000300: 3.182751e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 1.189e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.932e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.182402e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993614533681087e-5
allele num: 66714
num of homozygotes: 1

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.92e-2

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 1.848e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 3.181796e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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
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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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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
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: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 3.180463e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

FS
type: SiteQuality
SIO_000300: 2.962e0

QD
type: SiteQuality
SIO_000300: 1.184e1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

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: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997181324777355e-5
allele num: 66698
num of homozygotes: 0

East Asian
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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: 900
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
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SIO_000300: 1.09e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.179869e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

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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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.179367e6

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.99e1

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

South Asian
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East Asian
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allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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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GenotypeQuality
all individuals: 2892
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
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: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

DP
type: SiteQuality
SIO_000300: 3.174322e6

GenotypeQuality
all individuals: 7656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2015
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.479471120389701e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 9736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.681e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e0

QD
type: SiteQuality
SIO_000300: 1.465e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

DP
type: SiteQuality
SIO_000300: 3.171644e6

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41496
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 9736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.946e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 3.170814e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

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

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
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: 9736
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: -2.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.522e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

DP
type: SiteQuality
SIO_000300: 3.16941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 5.031e0

DP
type: SiteQuality
SIO_000300: 3.165082e6

QD
type: SiteQuality
SIO_000300: 1.913e1

VQSLOD
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.017e1

GenotypeQuality
all individuals: 442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41491
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.584e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.254e0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

FS
type: SiteQuality
SIO_000300: 1.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

DP
type: SiteQuality
SIO_000300: 3.162704e6