http://identifiers.org/exac.variant/1-245179011-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179010
    reference: chr 1
allele count: 237
allele frequency: 4.471698113207547e-1
allele num: 530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43661delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1517delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1517delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43661delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1517delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1517delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13493delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1517delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43661delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1517delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1517delA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 427
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 119
num of homozygotes: 26
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: CA
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-245179011-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179012
    reference: chr 1
allele count: 2
allele frequency: 3.773584905660377e-3
allele num: 530
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13493dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1517dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1517dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1517dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43661dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1517dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1517dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43661dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1517dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43661dupA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1517dupA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-245179011-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179009
    reference: chr 1
allele count: 39
allele frequency: 7.358490566037736e-2
allele num: 530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13492_151+13493delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43662_94-43661delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43662_55-43661delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1518_22-1517delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43662_159-43661delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1518_81-1517delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1518_201-1517delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1518_26-1517delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1518_434-1517delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1518_26-1517delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1518_95-1517delAA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 6
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: CAA
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-245179011-CAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179008
    reference: chr 1
allele count: 13
allele frequency: 2.452830188679245e-2
allele num: 530
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 78
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 2.941176470588235e-2
  allele num: 34
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 1.5625e-2
  allele num: 256
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
reference allele: CAAA
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-245179011-CAAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179007
    reference: chr 1
allele count: 4
allele frequency: 7.547169811320755e-3
allele num: 530
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.90625e-3
  allele num: 256
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 22
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.449275362318841e-2
  allele num: 138
  num of homozygotes: 0
population: African
population: East Asian
population: Other
reference allele: CAAAA
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-245179023-AAAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179018
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1517_95-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1517_81-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1517_201-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1517_22-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1517_434-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1517_26-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1517_26-1513delAGAAA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: AAAAAG
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-245179024-AAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179020
    reference: chr 1
allele count: 63
allele frequency: 1.918392204628502e-2
allele num: 3284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1509_26-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1509_81-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13501_151+13504delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1509_22-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43653_94-43650delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1509_434-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1509_95-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43653_159-43650delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1509_201-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43653_55-43650delAGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1509_26-1506delAGAA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.5e0
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 7.5e0
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 14
num of homozygotes: 3
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: AAAAG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-245179025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179025
    reference: chr 1
allele count: 3
allele frequency: 1.01010101010101e-3
allele num: 2970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13491A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43663A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1519A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43663A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43663A>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-245179025-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179022
    reference: chr 1
allele count: 1
allele frequency: 3.367003367003367e-4
allele num: 2970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1516_434-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1516_26-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43660_159-43658delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1516_22-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1516_81-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1516_201-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43660_55-43658delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1516_95-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1516_26-1514delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13494_151+13496delGAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43660_94-43658delGAA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: AAAG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-245179026-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179026
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179024
    reference: chr 1
allele count: 8
allele frequency: 2.664890073284477e-3
allele num: 3002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43660_55-43659delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1516_26-1515delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1516_95-1515delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1516_434-1515delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1516_26-1515delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13494_151+13495delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43660_159-43659delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43660_94-43659delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1516_201-1515delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1516_81-1515delGA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1516_22-1515delGA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: AAG
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-245179027-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179026
    reference: chr 1
allele count: 3
allele frequency: 1.147666411629686e-3
allele num: 2614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43660delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13494delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43660delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1516delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43660delG
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: AG
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-245179028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179028
    reference: chr 1
allele count: 41
allele frequency: 5.601092896174863e-2
allele num: 732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13494G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43660G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1516G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43660G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43660G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 2.5e0
  variant carriers: 2
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-245179032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179032
    reference: chr 1
allele count: 8
allele frequency: 5.154639175257732e-3
allele num: 1552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13498G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1512G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43656G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43656G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43656G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-245179032-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179030
    reference: chr 1
allele count: 1
allele frequency: 6.443298969072165e-4
allele num: 1552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1510_201-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1510_22-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43654_159-43653delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1510_26-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1510_26-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1510_81-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1510_95-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1510_434-1509delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43654_55-43653delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43654_94-43653delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13500_151+13501delAA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: GAA
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-245179036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179036
    reference: chr 1
allele count: 1
allele frequency: 5.081300813008131e-4
allele num: 1968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43652G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43652G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43652G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1508G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13502G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-245179036-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245179036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245179034
    reference: chr 1
allele count: 1
allele frequency: 5.081300813008131e-4
allele num: 1968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-1507_22-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-1507_434-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-1507_26-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-1507_26-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-1507_95-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43651_94-43650delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43651_55-43650delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-1507_201-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-1507_81-1506delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43651_159-43650delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+13503_151+13504delAA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: GAA
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-245180503-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180503
    reference: chr 1
allele count: 4
allele frequency: 3.780289570181076e-5
allele num: 105812
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-41A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-41A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-41A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42185A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+14969A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42185A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-41A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-41A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-41A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42185A>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-41A>T
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-245180510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180510
    reference: chr 1
allele count: 33
allele frequency: 3.08815272318922e-4
allele num: 106860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-34G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+14976G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42178G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42178G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42178G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25405
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-245180510-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180510
    reference: chr 1
allele count: 1
allele frequency: 9.358038555118847e-6
allele num: 106860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-34G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42178G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42178G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-34G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-34G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-34G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+14976G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-34G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42178G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-34G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-34G>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-245180519-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180519
    reference: chr 1
allele count: 2
allele frequency: 1.815573993718114e-5
allele num: 110158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-25T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42169T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-25T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+14985T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-25T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42169T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-25T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-25T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-25T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42169T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-25T>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS

1-245180519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180519
    reference: chr 1
allele count: 11
allele frequency: 9.985656965449626e-5
allele num: 110158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+14985T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42169T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42169T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42169T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-25T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-25T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-25T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-25T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-25T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-25T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-25T>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-245180523-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180523
    reference: chr 1
allele count: 1
allele frequency: 8.940705242829554e-6
allele num: 111848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.81-21T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42165T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.26-21T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42165T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.95-21T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42165T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+14989T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.434-21T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.22-21T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.201-21T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.26-21T>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-245180549-ATAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180546
    reference: chr 1
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.443_445delTAG
  hgvsp: ENSP00000355479.2:p.Val148del
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15019_151+15021delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42135_159-42133delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42135_55-42133delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.10_12delTAG
  hgvsp: ENSP00000447807.1:p.Val4del
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.210_212delTAG
  hgvsp: ENSP00000355478.3:p.Val71del
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.90_92delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.31_33delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.10_12delTAG
  hgvsp: ENSP00000405269.1:p.Val4del
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.35_37delTAG
  hgvsp: ENSP00000408661.2:p.Val12del
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.104_106delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42135_94-42133delTAG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.35_37delTAG
  hgvsp: ENSP00000355480.1:p.Val12del
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val12del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: ATAG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-245180550-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180549
    reference: chr 1
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15017delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.8delA
  hgvsp: ENSP00000447807.1:p.Ile3MetfsTer2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.88delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42137delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.33delA
  hgvsp: ENSP00000355480.1:p.Ile11MetfsTer2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.441delA
  hgvsp: ENSP00000355479.2:p.Ile147MetfsTer2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.33delA
  hgvsp: ENSP00000408661.2:p.Ile11MetfsTer2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.208delA
  hgvsp: ENSP00000355478.3:p.Ile70MetfsTer2
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.102delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.29delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42137delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42137delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.8delA
  hgvsp: ENSP00000405269.1:p.Ile3MetfsTer2
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile11MetfsTer2
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: TA
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-245180551-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180551
    reference: chr 1
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42137A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15017A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.441A>C
  hgvsp: ENST00000366522.2:c.441A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.33A>C
  hgvsp: ENST00000366523.1:c.33A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.208A>C
  hgvsp: ENST00000366521.3:c.208A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.8A>C
  hgvsp: ENST00000551317.1:c.8A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.8A>C
  hgvsp: ENST00000425550.1:c.8A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.33A>C
  hgvsp: ENST00000447569.2:c.33A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.102A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42137A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.88A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.29A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42137A>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile11Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-245180554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180554
    reference: chr 1
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42134A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.444A>G
  hgvsp: ENST00000366522.2:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.11A>G
  hgvsp: ENST00000425550.1:c.11A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.105A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.11A>G
  hgvsp: ENST00000551317.1:c.11A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42134A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42134A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.36A>G
  hgvsp: ENST00000366523.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.36A>G
  hgvsp: ENST00000447569.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.211A>G
  hgvsp: ENST00000366521.3:c.211A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.91A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.32A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15020A>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val12Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-245180555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180555
    reference: chr 1
allele count: 12
allele frequency: 9.988180652894075e-5
allele num: 120142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.212G>A
  hgvsp: ENSP00000355478.3:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42133G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.33G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.37G>A
  hgvsp: ENSP00000408661.2:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.445G>A
  hgvsp: ENSP00000355479.2:p.Ala149Thr
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.106G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.12G>A
  hgvsp: ENSP00000405269.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.92G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.12G>A
  hgvsp: ENSP00000447807.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.37G>A
  hgvsp: ENSP00000355480.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42133G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15021G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42133G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41091
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala13Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-245180575-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180573
    reference: chr 1
allele count: 3
allele frequency: 2.484019474712682e-5
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42111_55-42110delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.234_235delAA
  hgvsp: ENSP00000355478.3:p.Lys79ArgfsTer4
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.128_129delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.34_35delAA
  hgvsp: ENSP00000447807.1:p.Lys12ArgfsTer4
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.114_115delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.34_35delAA
  hgvsp: ENSP00000405269.1:p.Lys12ArgfsTer4
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42111_94-42110delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.59_60delAA
  hgvsp: ENSP00000355480.1:p.Lys20ArgfsTer4
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.467_468delAA
  hgvsp: ENSP00000355479.2:p.Lys156ArgfsTer4
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15043_151+15044delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42111_159-42110delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.55_56delAA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.59_60delAA
  hgvsp: ENSP00000408661.2:p.Lys20ArgfsTer4
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys20ArgfsTer4
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CAA
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-245180580-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180579
    reference: chr 1
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.472delG
  hgvsp: ENSP00000355479.2:p.Ala158HisfsTer15
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.133delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42106delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.239delG
  hgvsp: ENSP00000355478.3:p.Ala81HisfsTer15
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.64delG
  hgvsp: ENSP00000408661.2:p.Ala22HisfsTer15
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.39delG
  hgvsp: ENSP00000447807.1:p.Ala14HisfsTer15
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.60delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.64delG
  hgvsp: ENSP00000355480.1:p.Ala22HisfsTer15
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.39delG
  hgvsp: ENSP00000405269.1:p.Ala14HisfsTer15
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15048delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42106delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.119delG
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42106delG
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala22HisfsTer15
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: AG
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-245180589-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180589
    reference: chr 1
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.140A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.126A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.71A>C
  hgvsp: ENSP00000355480.1:p.Glu24Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.479A>C
  hgvsp: ENSP00000355479.2:p.Glu160Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.246A>C
  hgvsp: ENSP00000355478.3:p.Glu83Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42099A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.71A>C
  hgvsp: ENSP00000408661.2:p.Glu24Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.46A>C
  hgvsp: ENSP00000447807.1:p.Glu16Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.46A>C
  hgvsp: ENSP00000405269.1:p.Glu16Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15055A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42099A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.67A>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42099A>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu24Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-245180592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180592
    reference: chr 1
allele count: 2
allele frequency: 1.654725067430047e-5
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15058T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.482T>C
  hgvsp: ENSP00000355479.2:p.Val161Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42096T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.70T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.74T>C
  hgvsp: ENSP00000408661.2:p.Val25Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.49T>C
  hgvsp: ENSP00000405269.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.129T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.143T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.74T>C
  hgvsp: ENSP00000355480.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.249T>C
  hgvsp: ENSP00000355478.3:p.Val84Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42096T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42096T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.49T>C
  hgvsp: ENSP00000447807.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val25Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-245180595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180595
    reference: chr 1
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.146T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42093T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42093T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.77T>C
  hgvsp: ENSP00000408661.2:p.Phe26Ser
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.52T>C
  hgvsp: ENSP00000447807.1:p.Phe18Ser
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.52T>C
  hgvsp: ENSP00000405269.1:p.Phe18Ser
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.77T>C
  hgvsp: ENSP00000355480.1:p.Phe26Ser
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15061T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.132T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.485T>C
  hgvsp: ENSP00000355479.2:p.Phe162Ser
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.252T>C
  hgvsp: ENSP00000355478.3:p.Phe85Ser
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.73T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42093T>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe26Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-245180603-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180603
    reference: chr 1
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.60G>T
  hgvsp: ENSP00000405269.1:p.Glu21Ter
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.140G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42085G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.154G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.60G>T
  hgvsp: ENSP00000447807.1:p.Glu21Ter
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42085G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.260G>T
  hgvsp: ENSP00000355478.3:p.Glu88Ter
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.493G>T
  hgvsp: ENSP00000355479.2:p.Glu165Ter
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.85G>T
  hgvsp: ENSP00000355480.1:p.Glu29Ter
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15069G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42085G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.85G>T
  hgvsp: ENSP00000408661.2:p.Glu29Ter
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.81G>T
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu29Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-245180607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180607
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180607
    reference: chr 1
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42081C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.264C>T
  hgvsp: ENSP00000355478.3:p.Ser89Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.89C>T
  hgvsp: ENSP00000408661.2:p.Ser30Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15073C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.85C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42081C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.158C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.144C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.64C>T
  hgvsp: ENSP00000447807.1:p.Ser22Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.64C>T
  hgvsp: ENSP00000405269.1:p.Ser22Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.497C>T
  hgvsp: ENSP00000355479.2:p.Ser166Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42081C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.89C>T
  hgvsp: ENSP00000355480.1:p.Ser30Leu
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser30Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

1-245180619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180619
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180619
    reference: chr 1
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15085T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.97T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.101T>C
  hgvsp: ENSP00000408661.2:p.Val34Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.76T>C
  hgvsp: ENSP00000405269.1:p.Val26Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.101T>C
  hgvsp: ENSP00000355480.1:p.Val34Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42069T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42069T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.156T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.276T>C
  hgvsp: ENSP00000355478.3:p.Val93Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.509T>C
  hgvsp: ENSP00000355479.2:p.Val170Ala
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.170T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42069T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.76T>C
  hgvsp: ENSP00000447807.1:p.Val26Ala
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val34Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-245180620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180620
    reference: chr 1
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42068G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.77G>A
  hgvsp: ENST00000425550.1:c.77G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42068G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.171G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.277G>A
  hgvsp: ENST00000366521.3:c.277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.157G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.77G>A
  hgvsp: ENST00000551317.1:c.77G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.510G>A
  hgvsp: ENST00000366522.2:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.102G>A
  hgvsp: ENST00000366523.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.102G>A
  hgvsp: ENST00000447569.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.98G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42068G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15086G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val34Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

1-245180624-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180624
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180624
    reference: chr 1
allele count: 2
allele frequency: 1.661101975050248e-5
allele num: 120402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.81G>C
  hgvsp: ENSP00000405269.1:p.Val28Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15090G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.514G>C
  hgvsp: ENSP00000355479.2:p.Val172Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42064G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.175G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.106G>C
  hgvsp: ENSP00000408661.2:p.Val36Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.281G>C
  hgvsp: ENSP00000355478.3:p.Val95Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.161G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.106G>C
  hgvsp: ENSP00000355480.1:p.Val36Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42064G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.102G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.81G>C
  hgvsp: ENSP00000447807.1:p.Val28Leu
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42064G>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val36Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-245180628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180628
    reference: chr 1
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518G>A
  hgvsp: ENSP00000355479.2:p.Arg173Lys
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285G>A
  hgvsp: ENSP00000355478.3:p.Arg96Lys
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42060G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85G>A
  hgvsp: ENSP00000447807.1:p.Arg29Lys
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85G>A
  hgvsp: ENSP00000405269.1:p.Arg29Lys
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15094G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110G>A
  hgvsp: ENSP00000408661.2:p.Arg37Lys
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42060G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42060G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110G>A
  hgvsp: ENSP00000355480.1:p.Arg37Lys
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35779
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg37Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-245180631-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180631
    reference: chr 1
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42057G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42057G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+3G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42057G>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15097G>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.110+3G>C
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: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

1-245180634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180634
    reference: chr 1
allele count: 1
allele frequency: 8.415524960447032e-6
allele num: 118828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42054G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15100G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42054G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+6G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42054G>T
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.110+6G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-245180637-ATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180634
    reference: chr 1
allele count: 2
allele frequency: 1.703925845147219e-5
allele num: 117376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42049_94-42047delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+11_85+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+11_518+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+11_106+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42049_159-42047delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+11_179+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+11_85+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+11_285+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42049_55-42047delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+11_165+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+11_110+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+11_110+13delATT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15105_151+15107delATT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: ATAT
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-245180638-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180637
    reference: chr 1
allele count: 4
allele frequency: 3.464583297243924e-5
allele num: 115454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42049delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42049delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42049delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+11delA
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15105delA
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12380
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: TA
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-245180639-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180640
    reference: chr 1
allele count: 1002
allele frequency: 1.212370535282161e-2
allele num: 82648
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42038dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15116dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42038dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42038dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+22dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+22dupT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 2.75e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 3.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.75e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-245180639-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180638
    reference: chr 1
allele count: 23302
allele frequency: 2.819426967379731e-1
allele num: 82648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15116delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42038delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42038delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42038delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+22delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+22delT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.75e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.25e1
  variant carriers: 5459
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 2.75e1
  variant carriers: 5771
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.25e1
  variant carriers: 1084
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.25e1
  variant carriers: 995
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.75e1
  variant carriers: 3305
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 3878
genotype quality: GenotypeQuality
num of homozygotes: 683
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: AT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

1-245180639-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180637
    reference: chr 1
allele count: 76
allele frequency: 9.195624818507405e-4
allele num: 82648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42039_55-42038delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+21_285+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+21_85+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+21_110+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+21_85+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+21_165+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42039_159-42038delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+21_110+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+21_179+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42039_94-42038delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+21_106+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+21_518+22delTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15115_151+15116delTT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: ATT
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

1-245180641-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180641
    reference: chr 1
allele count: 2
allele frequency: 4.284673722096063e-5
allele num: 46678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15107T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42047T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+13T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42047T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42047T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+13T>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-245180649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180649
    reference: chr 1
allele count: 5
allele frequency: 4.428697962798937e-5
allele num: 112900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42039T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15115T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42039T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42039T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+21T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+21T>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-245180650-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180650
    reference: chr 1
allele count: 1
allele frequency: 8.862733976176972e-6
allele num: 112832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42038T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42038T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15116T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42038T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+22T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+22T>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-245180656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180656
    reference: chr 1
allele count: 1
allele frequency: 8.979239997126644e-6
allele num: 111368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15122A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42032A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42032A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42032A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+28A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+28A>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-245180658-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180658
    reference: chr 1
allele count: 1
allele frequency: 9.019247073254325e-6
allele num: 110874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42030T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15124T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42030T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+30T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42030T>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+30T>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-245180674-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180674
    reference: chr 1
allele count: 2
allele frequency: 1.882601001543733e-5
allele num: 106236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42014C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42014C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15140C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42014C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+46C>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+46C>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-245180677-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245180677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245180677
    reference: chr 1
allele count: 1315
allele frequency: 1.253742158152661e-2
allele num: 104886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.110+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-42011G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.106+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.518+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.151+15143G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.85+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.285+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000479260
  gene symbol: EFCAB2
  hgvsc: ENST00000479260.1:n.165+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-42011G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.110+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-42011G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.179+49G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.85+49G>T
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 1.25e1
  variant carriers: 326
genotype depth: GenotypeDepth
  all individuals: 16355
  bin: 1.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 10
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-245222637-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222637
    reference: chr 1
allele count: 7
allele frequency: 6.429568667793372e-5
allele num: 108872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-51G>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-51G>T
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-245222644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222644
    reference: chr 1
allele count: 5
allele frequency: 4.577999963376e-5
allele num: 109218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-44C>T
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-44C>T
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-245222645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222645
    reference: chr 1
allele count: 2
allele frequency: 1.82952487239064e-5
allele num: 109318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-43G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-43G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-245222651-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222651
    reference: chr 1
allele count: 1
allele frequency: 9.067005168192946e-6
allele num: 110290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-37T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-37T>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-245222654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222654
    reference: chr 1
allele count: 1
allele frequency: 9.03864926425395e-6
allele num: 110636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-34A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-34A>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-245222658-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222658
    reference: chr 1
allele count: 1
allele frequency: 8.985533291400844e-6
allele num: 111290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-30T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-30T>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-245222668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222668
    reference: chr 1
allele count: 1
allele frequency: 8.731031833342064e-6
allele num: 114534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-20G>A
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-20G>A
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-245222670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222670
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222670
    reference: chr 1
allele count: 2
allele frequency: 1.736201538274563e-5
allele num: 115194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-18A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-18A>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

1-245222672-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222672
    reference: chr 1
allele count: 1
allele frequency: 8.651866207540966e-6
allele num: 115582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-16A>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-16A>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

1-245222673-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222674
    reference: chr 1
allele count: 1462
allele frequency: 1.784929433022416e-2
allele num: 81908
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-5dupT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-5dupT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.25e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 5.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
num of homozygotes: 5
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-245222673-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222675
    reference: chr 1
allele count: 3
allele frequency: 3.662645895394833e-5
allele num: 81908
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-6_159-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-6_107-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-6_180-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-6_519-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-6_111-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-6_86-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-6_86-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-6_111-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-6_152-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-6_55-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-6_286-5dupTT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-6_94-5dupTT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-245222673-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222672
    reference: chr 1
allele count: 1261
allele frequency: 1.539532158030962e-2
allele num: 81908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-5delT
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-5delT
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 5.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 386
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: CT
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-245222674-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222674
    reference: chr 1
allele count: 1
allele frequency: 1.409920198516764e-5
allele num: 70926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-14T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-14T>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-245222675-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222675
    reference: chr 1
allele count: 2
allele frequency: 2.010131060545147e-5
allele num: 99496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-13T>G
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-13T>G
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

1-245222681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 245222681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 245222681
    reference: chr 1
allele count: 1
allele frequency: 8.417083312290625e-6
allele num: 118806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355478
  ensembl transcript: ENST00000366521
  gene symbol: EFCAB2
  hgvsc: ENST00000366521.3:c.286-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000473686
  gene symbol: EFCAB2
  hgvsc: ENST00000473686.1:n.94-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355480
  ensembl transcript: ENST00000366523
  gene symbol: EFCAB2
  hgvsc: ENST00000366523.1:c.111-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000549220
  gene symbol: EFCAB2
  hgvsc: ENST00000549220.1:n.152-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000487845
  gene symbol: EFCAB2
  hgvsc: ENST00000487845.1:n.55-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000495271
  gene symbol: EFCAB2
  hgvsc: ENST00000495271.1:n.107-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000447807
  ensembl transcript: ENST00000551317
  gene symbol: EFCAB2
  hgvsc: ENST00000551317.1:c.86-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000355479
  ensembl transcript: ENST00000366522
  gene symbol: EFCAB2
  hgvsc: ENST00000366522.2:c.519-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000408661
  ensembl transcript: ENST00000447569
  gene symbol: EFCAB2
  hgvsc: ENST00000447569.2:c.111-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl protein: ENSP00000405269
  ensembl transcript: ENST00000425550
  gene symbol: EFCAB2
  hgvsc: ENST00000425550.1:c.86-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000497591
  gene symbol: EFCAB2
  hgvsc: ENST00000497591.1:n.159-7T>C
  variant of: http://identifiers.org/hgnc/28166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203666
  ensembl transcript: ENST00000391837
  gene symbol: EFCAB2
  hgvsc: ENST00000391837.3:n.180-7T>C
  variant of: http://identifiers.org/hgnc/28166
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.111-7T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 23

GenotypeQuality
all individuals: 2862
bin: 2.5e0
variant carriers: 77

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 31

GenotypeQuality
all individuals: 20
bin: 7.75e1
variant carriers: 13

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 102

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 51

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 45

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 27

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 38

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 68

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 72

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 23

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 25
bin: 6.25e1
variant carriers: 19

GenotypeQuality
all individuals: 24
bin: 6.75e1
variant carriers: 20

European (Non-Finnish)
type: Population
allele count: 127
allele frequency: 4.9609375e-1
allele num: 256
num of homozygotes: 17

Latino
type: Population
allele count: 12
allele frequency: 5.454545454545454e-1
allele num: 22
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 4.705882352941176e-1
allele num: 34
num of homozygotes: 4

African
type: Population
allele count: 35
allele frequency: 4.487179487179487e-1
allele num: 78
num of homozygotes: 1

South Asian
type: Population
allele count: 46
allele frequency: 3.333333333333333e-1
allele num: 138
num of homozygotes: 2

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

MQ
type: SiteQuality
SIO_000300: 5.499e1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

FS
type: SiteQuality
SIO_000300: 1.5586e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 7.65e0

DP
type: SiteQuality
SIO_000300: 3.6493e4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 25
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.8125e-3
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

FS
type: SiteQuality
SIO_000300: 1.5586e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 7.65e0

MQ
type: SiteQuality
SIO_000300: 5.499e1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 3.6493e4

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 25
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 24
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 776
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 2862
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 20
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 6.640625e-2
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.159420289855072e-1
allele num: 138
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 8.823529411764706e-2
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.846153846153846e-2
allele num: 78
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.65e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 1.5586e1

DP
type: SiteQuality
SIO_000300: 3.6493e4

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.797101449275362e-2
allele num: 138
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 1.5586e1

QD
type: SiteQuality
SIO_000300: 7.65e0

DP
type: SiteQuality
SIO_000300: 3.6493e4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

MQ
type: SiteQuality
SIO_000300: 5.499e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.941176470588235e-2
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.6493e4

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 1.5586e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 7.65e0

MQ
type: SiteQuality
SIO_000300: 5.499e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 2695
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.0712e1

DP
type: SiteQuality
SIO_000300: 5.2741e4

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.258e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.29e-2

MQ
type: SiteQuality
SIO_000300: 5.39e1

QD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 8
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 11

GenotypeQuality
all individuals: 368
bin: 2.5e0
variant carriers: 28

GenotypeQuality
all individuals: 581
bin: 1.75e1
variant carriers: 22

GenotypeQuality
all individuals: 463
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 119
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1696
bin: 2.25e1
variant carriers: 16

GenotypeQuality
all individuals: 2636
bin: 7.5e0
variant carriers: 31

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 16
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 17
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 11

African
type: Population
allele count: 33
allele frequency: 9.269662921348315e-2
allele num: 356
num of homozygotes: 3

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

Latino
type: Population
allele count: 2
allele frequency: 2.040816326530612e-2
allele num: 98
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.428571428571429e-2
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 1.51285930408472e-2
allele num: 1322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 4.491017964071856e-3
allele num: 1336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.175e-1

DP
type: SiteQuality
SIO_000300: 5.2188e4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.5427e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.569999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.408e1

QD
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.363636363636364e-2
allele num: 220
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

FS
type: SiteQuality
SIO_000300: 5.086e0

VQSLOD
type: SiteQuality
SIO_000300: -1.453e0

QD
type: SiteQuality
SIO_000300: 5.43e0

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

MQ
type: SiteQuality
SIO_000300: 5.689e1

DP
type: SiteQuality
SIO_000300: 4.8198e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.836990595611285e-4
allele num: 1276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 5.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.453e0

DP
type: SiteQuality
SIO_000300: 4.8198e4

MQ
type: SiteQuality
SIO_000300: 5.689e1

FS
type: SiteQuality
SIO_000300: 5.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.542e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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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: 1

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 7.849293563579278e-4
allele num: 1274
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.333333333333333e-2
allele num: 30
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 1.515151515151515e-2
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 8.547008547008548e-3
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.618122977346278e-3
allele num: 1236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

FS
type: SiteQuality
SIO_000300: 8.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

QD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 4.8703e4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.708e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.8125e-3
allele num: 256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.398496240601503e-4
allele num: 1064
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.886e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.264e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

QD
type: SiteQuality
SIO_000300: 3.19e0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1730
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variant carriers: 7

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 23
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variant carriers: 4

GenotypeQuality
all individuals: 243
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 3

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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variant carriers: 4

GenotypeQuality
all individuals: 6
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variant carriers: 4

GenotypeQuality
all individuals: 17
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variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 17

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 4.545454545454546e-2
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 2.021276595744681e-1
allele num: 94
num of homozygotes: 1

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

Latino
type: Population
allele count: 2
allele frequency: 9.090909090909091e-2
allele num: 22
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 7.142857142857142e-2
allele num: 42
num of homozygotes: 1

South Asian
type: Population
allele count: 4
allele frequency: 1.438848920863309e-2
allele num: 278
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 5.573e1

QD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.552e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.794e0

DP
type: SiteQuality
SIO_000300: 4.8057e4

FS
type: SiteQuality
SIO_000300: 4.224e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

VQSLOD
type: SiteQuality
SIO_000300: -4.889e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 1.685393258426966e-2
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 6.944444444444444e-3
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 3.4599e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e0

MQ
type: SiteQuality
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QD
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VQSLOD
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SIO_000300: -3.281e0

MQRankSum
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BaseQRankSum
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SIO_000300: -3.075e0

ClippingRankSum
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SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 4.8992e4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.617977528089887e-3
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.645e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.4599e1

BaseQRankSum
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MQRankSum
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SIO_000300: -2.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.8992e4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.8216e4

MQ
type: SiteQuality
SIO_000300: 5.702e1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 2.2547e1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2946
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.546099290780142e-3
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.702e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.82e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

DP
type: SiteQuality
SIO_000300: 4.8216e4

QD
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

FS
type: SiteQuality
SIO_000300: 2.2547e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 1052
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6380
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6911
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.85442435775452e-4
allele num: 10510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737740242588538e-5
allele num: 57546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14394
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.341903e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 5101
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.219360568383659e-3
allele num: 9008
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.757985719654265e-4
allele num: 10644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58156
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.419295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 2939
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719513033908797e-5
allele num: 58156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.419295e6

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeQuality
all individuals: 488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.157497303128371e-4
allele num: 9270
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.638e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 1.51774e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 1.007510533064664e-3
allele num: 10918
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.51774e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.638e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
all individuals: 36763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 179
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variant carriers: 0

GenotypeQuality
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
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GenotypeQuality
all individuals: 1427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.618133686300464e-5
allele num: 15110
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 1.549505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1254
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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DP
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QD
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ClippingRankSum
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SIO_000300: 5.17e-1

MQ
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SIO_000300: 5.744e1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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DP
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MQ
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SIO_000300: 6.007e1

ReadPosRankSum
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SIO_000300: -1.428e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516852228255923e-5
allele num: 65926
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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MQ
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SIO_000300: 5.9e1

ReadPosRankSum
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SIO_000300: -1.347e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66076
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 3.11e-2

ClippingRankSum
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SIO_000300: 2.98e-1

DP
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SIO_000300: 1.675045e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.814827137715133e-4
allele num: 66122
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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MQRankSum
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FS
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 2.929115407147042e-4
allele num: 10242
num of homozygotes: 0

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

Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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MQRankSum
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 6.081245439065921e-5
allele num: 16444
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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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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QD
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 1.685405e6

InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -4.24e-1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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SIO_000300: 1.685535e6

MQ
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SIO_000300: 5.942e1

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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FS
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

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

Other
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East Asian
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allele num: 8608
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele num: 8610
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African
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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VQSLOD
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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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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QD
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.671522719389525e-5
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European (Non-Finnish)
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.957713390759593e-4
allele num: 10216
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66004
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Latino
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Other
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European (Finnish)
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South Asian
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East Asian
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 65750
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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MQRankSum
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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Other
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African
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European (Non-Finnish)
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FS
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 26

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 4903
bin: 2.25e1
variant carriers: 206

GenotypeQuality
all individuals: 2218
bin: 3.75e1
variant carriers: 96

GenotypeQuality
all individuals: 1395
bin: 5.25e1
variant carriers: 62

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3151
bin: 7.5e0
variant carriers: 173

GenotypeQuality
all individuals: 1118
bin: 5.75e1
variant carriers: 40

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1273
bin: 6.75e1
variant carriers: 33

GenotypeQuality
all individuals: 1816
bin: 4.25e1
variant carriers: 110

GenotypeQuality
all individuals: 2798
bin: 3.25e1
variant carriers: 105

GenotypeQuality
all individuals: 5045
bin: 6.25e1
variant carriers: 21

European (Finnish)
type: Population
allele count: 16
allele frequency: 3.17208564631245e-3
allele num: 5044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 515
allele frequency: 1.159857664069186e-2
allele num: 44402
num of homozygotes: 0

South Asian
type: Population
allele count: 256
allele frequency: 2.327272727272727e-2
allele num: 11000
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 1.24223602484472e-2
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 104
allele frequency: 1.383346634743283e-2
allele num: 7518
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 5.603667855323484e-3
allele num: 7852
num of homozygotes: 0

East Asian
type: Population
allele count: 59
allele frequency: 9.53458306399483e-3
allele num: 6188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 2.087763e6

FS
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.294e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 6.59e0

GenotypeDepth
all individuals: 6154
bin: 3.75e1
variant carriers: 2229

GenotypeDepth
all individuals: 113
bin: 9.25e1
variant carriers: 36

GenotypeDepth
all individuals: 1862
bin: 9.75e1
variant carriers: 1220

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 390

GenotypeQuality
all individuals: 5045
bin: 6.25e1
variant carriers: 678

GenotypeQuality
all individuals: 2170
bin: 1.75e1
variant carriers: 780

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 391

GenotypeQuality
all individuals: 1118
bin: 5.75e1
variant carriers: 681

GenotypeQuality
all individuals: 1395
bin: 5.25e1
variant carriers: 766

GenotypeQuality
all individuals: 3166
bin: 2.75e1
variant carriers: 1000

GenotypeQuality
all individuals: 1273
bin: 6.75e1
variant carriers: 561

GenotypeQuality
all individuals: 3151
bin: 7.5e0
variant carriers: 756

GenotypeQuality
all individuals: 1622
bin: 4.75e1
variant carriers: 833

GenotypeQuality
all individuals: 4903
bin: 2.25e1
variant carriers: 997

GenotypeQuality
all individuals: 2684
bin: 1.25e1
variant carriers: 781

GenotypeQuality
all individuals: 10574
bin: 2.5e0
variant carriers: 542

GenotypeQuality
all individuals: 2218
bin: 3.75e1
variant carriers: 937

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 442

GenotypeQuality
all individuals: 13539
bin: 9.75e1
variant carriers: 12435

GenotypeQuality
all individuals: 1816
bin: 4.25e1
variant carriers: 856

GenotypeQuality
all individuals: 2798
bin: 3.25e1
variant carriers: 993

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 499

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 326

Other
type: Population
allele count: 156
allele frequency: 2.422360248447205e-1
allele num: 644
num of homozygotes: 3

African
type: Population
allele count: 2782
allele frequency: 3.543046357615894e-1
allele num: 7852
num of homozygotes: 210

Latino
type: Population
allele count: 2209
allele frequency: 2.938281457834531e-1
allele num: 7518
num of homozygotes: 39

European (Non-Finnish)
type: Population
allele count: 11190
allele frequency: 2.52015674969596e-1
allele num: 44402
num of homozygotes: 190

European (Finnish)
type: Population
allele count: 988
allele frequency: 1.958762886597938e-1
allele num: 5044
num of homozygotes: 35

East Asian
type: Population
allele count: 1923
allele frequency: 3.107627666451196e-1
allele num: 6188
num of homozygotes: 86

South Asian
type: Population
allele count: 4054
allele frequency: 3.685454545454546e-1
allele num: 11000
num of homozygotes: 120

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

DP
type: SiteQuality
SIO_000300: 2.087763e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.294e-1

QD
type: SiteQuality
SIO_000300: 6.59e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeDepth
all individuals: 11995
bin: 2.25e1
variant carriers: 34

GenotypeDepth
all individuals: 439
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1937
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1816
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2684
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2170
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3166
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 3151
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 10574
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 4903
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1118
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2798
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2218
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13539
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1273
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1395
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1622
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5045
bin: 6.25e1
variant carriers: 3

East Asian
type: Population
allele count: 10
allele frequency: 1.616031027795734e-3
allele num: 6188
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.528273051451859e-3
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.650704974727321e-4
allele num: 7518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 6.756452412053512e-4
allele num: 44402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.727272727272727e-3
allele num: 11000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 2.087763e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.294e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 6.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

GenotypeDepth
all individuals: 1054
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7044
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
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variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
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variant carriers: 0

GenotypeQuality
all individuals: 1442
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variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27753
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variant carriers: 0

GenotypeQuality
all individuals: 1610
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variant carriers: 0

GenotypeQuality
all individuals: 618
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variant carriers: 0

GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 4486
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variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.606722931544399e-5
allele num: 27726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.25022502250225e-4
allele num: 4444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

FS
type: SiteQuality
SIO_000300: 5.965e0

DP
type: SiteQuality
SIO_000300: 2.030168e6

QD
type: SiteQuality
SIO_000300: 4.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.347e-1

GenotypeDepth
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4681
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15226
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.106618243133695e-5
allele num: 61678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.610962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

FS
type: SiteQuality
SIO_000300: 2.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

GenotypeDepth
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.75e1
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GenotypeQuality
all individuals: 711
bin: 8.25e1
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GenotypeQuality
all individuals: 1083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62216526619732e-5
allele num: 61646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.494e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

QD
type: SiteQuality
SIO_000300: 7.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -2.006e0

DP
type: SiteQuality
SIO_000300: 1.607603e6

GenotypeDepth
all individuals: 164
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
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variant carriers: 0

GenotypeDepth
all individuals: 248
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GenotypeQuality
all individuals: 996
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variant carriers: 0

GenotypeQuality
all individuals: 6149
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variant carriers: 0

GenotypeQuality
all individuals: 679
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GenotypeQuality
all individuals: 667
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GenotypeQuality
all individuals: 2870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 1.75e1
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GenotypeQuality
all individuals: 11834
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
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GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
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GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
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GenotypeQuality
all individuals: 4465
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 19612
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GenotypeQuality
all individuals: 3673
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variant carriers: 1

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.050420168067227e-4
allele num: 9520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: -1.476e0

MQ
type: SiteQuality
SIO_000300: 6.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 1.934e1

FS
type: SiteQuality
SIO_000300: 1.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.46e-1

DP
type: SiteQuality
SIO_000300: 1.50796e6

VQSLOD
type: SiteQuality
SIO_000300: -2.412e0

GenotypeDepth
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bin: 2.5e0
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3674
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GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.651636772041093e-5
allele num: 60546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.731e0

MQRankSum
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SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 1.478814e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5230
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.452204232402389e-5
allele num: 57934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 1.366456e6

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

GenotypeDepth
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variant carriers: 258

GenotypeDepth
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variant carriers: 6

GenotypeDepth
all individuals: 83
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GenotypeQuality
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GenotypeQuality
all individuals: 8000
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1276

GenotypeQuality
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GenotypeQuality
all individuals: 378
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variant carriers: 17

African
type: Population
allele count: 12
allele frequency: 1.319551352540136e-3
allele num: 9094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 33
allele frequency: 5.218216318785579e-3
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1132
allele frequency: 1.981445825310695e-2
allele num: 57130
num of homozygotes: 9

South Asian
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allele count: 76
allele frequency: 5.492123139181963e-3
allele num: 13838
num of homozygotes: 1

Latino
type: Population
allele count: 51
allele frequency: 4.953379953379953e-3
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.710027100271003e-4
allele num: 7380
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.092233009708738e-2
allele num: 824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

QD
type: SiteQuality
SIO_000300: 1.498e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.361148e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 6239
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4136
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GenotypeQuality
all individuals: 7999
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.178887803563609e-4
allele num: 59378
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.42794e6

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 818
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GenotypeQuality
all individuals: 2604
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GenotypeQuality
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GenotypeQuality
all individuals: 867
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GenotypeQuality
all individuals: 621
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GenotypeQuality
all individuals: 6240
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GenotypeQuality
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GenotypeQuality
all individuals: 1980
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GenotypeQuality
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GenotypeQuality
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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: 243
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GenotypeQuality
all individuals: 495
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1564
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GenotypeQuality
all individuals: 2053
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.354279523293608e-4
allele num: 7384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.359424866462861e-5
allele num: 59534
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.29147571035747e-4
allele num: 8728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
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MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.799e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.454157e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2087
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GenotypeQuality
all individuals: 1600
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.165902841429881e-5
allele num: 10910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.466505e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 913
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2245
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GenotypeQuality
all individuals: 1727
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GenotypeQuality
all individuals: 5547
bin: 6.75e1
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GenotypeQuality
all individuals: 2618
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661681621801263e-5
allele num: 60180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
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MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1000
bin: 4.75e1
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GenotypeQuality
all individuals: 756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.074410163339382e-5
allele num: 11020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 2.374e1

ClippingRankSum
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SIO_000300: -2.286e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.546234e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeDepth
all individuals: 794
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6271
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.311647429171039e-4
allele num: 7624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8932
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e0

VQSLOD
type: SiteQuality
SIO_000300: -9.925e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.580508e6

QD
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SIO_000300: 1.526e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 27
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62670
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.907892392659897e-5
allele num: 11226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.097e0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.671885e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 5.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

GenotypeDepth
all individuals: 805
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6308
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 802
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variant carriers: 0

GenotypeQuality
all individuals: 3102
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 31635
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variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
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GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 723
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variant carriers: 0

GenotypeQuality
all individuals: 468
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GenotypeQuality
all individuals: 2614
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2026
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 836
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.546072974644403e-4
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584836286411614e-5
allele num: 63098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 1.683761e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

VQSLOD
type: SiteQuality
SIO_000300: -4.212e-1

FS
type: SiteQuality
SIO_000300: 8.365e0

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeDepth
all individuals: 391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 837
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GenotypeQuality
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GenotypeQuality
all individuals: 3120
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variant carriers: 0

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 6941
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variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 2625
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2757
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variant carriers: 0

GenotypeQuality
all individuals: 2048
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GenotypeQuality
all individuals: 31542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 988
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.063377286261165e-4
allele num: 9404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

VQSLOD
type: SiteQuality
SIO_000300: -9.653e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.403e1

MQ
type: SiteQuality
SIO_000300: 6.022e1

DP
type: SiteQuality
SIO_000300: 1.69702e6

GenotypeDepth
all individuals: 406
bin: 9.25e1
variant carriers: 26

GenotypeQuality
all individuals: 11096
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2465
bin: 1.25e1
variant carriers: 137

GenotypeQuality
all individuals: 2004
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variant carriers: 26

GenotypeQuality
all individuals: 2327
bin: 1.75e1
variant carriers: 116

GenotypeQuality
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bin: 7.75e1
variant carriers: 11

GenotypeQuality
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bin: 4.25e1
variant carriers: 35

GenotypeQuality
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bin: 2.5e0
variant carriers: 124

GenotypeQuality
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bin: 5.25e1
variant carriers: 29

GenotypeQuality
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bin: 9.25e1
variant carriers: 8

GenotypeQuality
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bin: 2.75e1
variant carriers: 81

GenotypeQuality
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bin: 3.75e1
variant carriers: 33

GenotypeQuality
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bin: 7.5e0
variant carriers: 131

GenotypeQuality
all individuals: 3577
bin: 9.75e1
variant carriers: 991

GenotypeQuality
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bin: 6.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1627
bin: 5.75e1
variant carriers: 18

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2588
bin: 3.25e1
variant carriers: 70

GenotypeQuality
all individuals: 1420
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 3661
bin: 2.25e1
variant carriers: 106

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 12

European (Non-Finnish)
type: Population
allele count: 1041
allele frequency: 2.303301177095318e-2
allele num: 45196
num of homozygotes: 5

Latino
type: Population
allele count: 87
allele frequency: 1.103780766302969e-2
allele num: 7882
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 5.759940542549238e-3
allele num: 5382
num of homozygotes: 0

African
type: Population
allele count: 46
allele frequency: 7.083461656914074e-3
allele num: 6494
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.661631419939577e-2
allele num: 662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 102
allele frequency: 1.994524833789597e-2
allele num: 5114
num of homozygotes: 0

South Asian
type: Population
allele count: 144
allele frequency: 1.288244766505636e-2
allele num: 11178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 2.363698e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

GenotypeDepth
all individuals: 464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
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variant carriers: 0

GenotypeQuality
all individuals: 1420
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3577
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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
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 2165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 5.25e1
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GenotypeQuality
all individuals: 2465
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 8.25e1
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GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.637755553588813e-5
allele num: 45196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
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SIO_000300: 2.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 2.363698e6

QD
type: SiteQuality
SIO_000300: 2.61e0

GenotypeDepth
all individuals: 2130
bin: 9.75e1
variant carriers: 106

GenotypeQuality
all individuals: 1850
bin: 5.25e1
variant carriers: 62

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 2882
bin: 7.5e0
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GenotypeQuality
all individuals: 2674
bin: 2.75e1
variant carriers: 165

GenotypeQuality
all individuals: 11084
bin: 2.5e0
variant carriers: 250

GenotypeQuality
all individuals: 2465
bin: 1.25e1
variant carriers: 270

GenotypeQuality
all individuals: 2408
bin: 3.75e1
variant carriers: 120

GenotypeQuality
all individuals: 2588
bin: 3.25e1
variant carriers: 135

GenotypeQuality
all individuals: 2950
bin: 6.75e1
variant carriers: 43

GenotypeQuality
all individuals: 11096
bin: 6.25e1
variant carriers: 55

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 23

GenotypeQuality
all individuals: 2165
bin: 4.25e1
variant carriers: 108

GenotypeQuality
all individuals: 3661
bin: 2.25e1
variant carriers: 177

GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 21

GenotypeQuality
all individuals: 2327
bin: 1.75e1
variant carriers: 230

GenotypeQuality
all individuals: 3577
bin: 9.75e1
variant carriers: 165

GenotypeQuality
all individuals: 1627
bin: 5.75e1
variant carriers: 56

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 17

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 2004
bin: 4.75e1
variant carriers: 80

Other
type: Population
allele count: 9
allele frequency: 1.359516616314199e-2
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 97
allele frequency: 1.493686479827533e-2
allele num: 6494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 4.49745795854517e-3
allele num: 5114
num of homozygotes: 0

South Asian
type: Population
allele count: 131
allele frequency: 1.171944891751655e-2
allele num: 11178
num of homozygotes: 0

Latino
type: Population
allele count: 102
allele frequency: 1.294087794975895e-2
allele num: 7882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 781
allele frequency: 1.728029029117621e-2
allele num: 45196
num of homozygotes: 0

East Asian
type: Population
allele count: 118
allele frequency: 2.192493496841323e-2
allele num: 5382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 2.363698e6

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

GenotypeDepth
all individuals: 2695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10729
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1622
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.619170984455959e-4
allele num: 6176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.920005e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeDepth
all individuals: 470
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6653
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.682563063892469e-5
allele num: 54310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.482e-1

DP
type: SiteQuality
SIO_000300: 2.074978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 4.248e0

QD
type: SiteQuality
SIO_000300: 1.572e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

GenotypeDepth
all individuals: 888
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11517
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8937
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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