http://identifiers.org/exac.variant/17-78354695-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354695
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354695
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26080T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25607T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7924A>C
  hgvsp: ENSP00000338218.6:p.Thr2642Pro
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13852A>C
  hgvsp: ENSP00000425956.2:p.Thr4618Pro
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13705A>C
  hgvsp: ENSP00000464087.1:p.Thr4569Pro
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1503A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3034A>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40058
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr4569Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-78354696-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354696
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354694
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13854_13855delAT
  hgvsp: ENSP00000425956.2:p.Cys4619Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26083_191-26082delAT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25610_191-25609delAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1505_1506delAT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3036_3037delAT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13707_13708delAT
  hgvsp: ENSP00000464087.1:p.Cys4570Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7926_7927delAT
  hgvsp: ENSP00000338218.6:p.Cys2643Ter
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40057
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys4570Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: CAT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-78354701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354701
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354701
    reference: chr 17
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1509G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13858G>A
  hgvsp: ENSP00000425956.2:p.Asp4620Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26086C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3040G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7930G>A
  hgvsp: ENSP00000338218.6:p.Asp2644Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13711G>A
  hgvsp: ENSP00000464087.1:p.Asp4571Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25613C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40057
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp4571Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

17-78354705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354705
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354705
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25617C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13715G>A
  hgvsp: ENSP00000464087.1:p.Arg4572Gln
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26090C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7934G>A
  hgvsp: ENSP00000338218.6:p.Arg2645Gln
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3044G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1513G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13862G>A
  hgvsp: ENSP00000425956.2:p.Arg4621Gln
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg4572Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-78354716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354716
    reference: chr 17
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26101G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13873C>T
  hgvsp: ENSP00000425956.2:p.Pro4625Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7945C>T
  hgvsp: ENSP00000338218.6:p.Pro2649Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13726C>T
  hgvsp: ENSP00000464087.1:p.Pro4576Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1524C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3055C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25628G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40057
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro4576Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-78354717-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354717
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354717
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13727C>G
  hgvsp: ENSP00000464087.1:p.Pro4576Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26102G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7946C>G
  hgvsp: ENSP00000338218.6:p.Pro2649Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1525C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13874C>G
  hgvsp: ENSP00000425956.2:p.Pro4625Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3056C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25629G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro4576Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-78354721-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354721
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354721
    reference: chr 17
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1529G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25633C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13878G>C
  hgvsp: ENST00000508628.2:c.13878G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26106C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13731G>C
  hgvsp: ENST00000582970.1:c.13731G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7950G>C
  hgvsp: ENST00000336301.6:c.7950G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3060G>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40056
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val4577Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

17-78354723-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354723
    reference: chr 17
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26108A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13733T>G
  hgvsp: ENSP00000464087.1:p.Val4578Gly
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13880T>G
  hgvsp: ENSP00000425956.2:p.Val4627Gly
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1531T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3062T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25635A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7952T>G
  hgvsp: ENSP00000338218.6:p.Val2651Gly
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40053
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val4578Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-78354726-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354726
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354726
    reference: chr 17
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13736T>G
  hgvsp: ENSP00000464087.1:p.Phe4579Cys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7955T>G
  hgvsp: ENSP00000338218.6:p.Phe2652Cys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13883T>G
  hgvsp: ENSP00000425956.2:p.Phe4628Cys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1534T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3065T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26111A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25638A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40052
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe4579Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-78354730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354730
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354730
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25642G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7959C>T
  hgvsp: ENST00000336301.6:c.7959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3069C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26115G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1538C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13740C>T
  hgvsp: ENST00000582970.1:c.13740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13887C>T
  hgvsp: ENST00000508628.2:c.13887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40052
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu4580Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-78354733-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354733
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354733
    reference: chr 17
allele count: 5
allele frequency: 4.121196135966503e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3072T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1541T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7962T>C
  hgvsp: ENST00000336301.6:c.7962T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13743T>C
  hgvsp: ENST00000582970.1:c.13743T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26118A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13890T>C
  hgvsp: ENST00000508628.2:c.13890T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25645A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40050
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56599
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu4581Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78354738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354738
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354738
    reference: chr 17
allele count: 6
allele frequency: 4.945843018942579e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1546G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25650C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3077G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13748G>A
  hgvsp: ENSP00000464087.1:p.Arg4583Gln
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7967G>A
  hgvsp: ENSP00000338218.6:p.Arg2656Gln
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26123C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13895G>A
  hgvsp: ENSP00000425956.2:p.Arg4632Gln
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40051
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg4583Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-78354747-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354747
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354747
    reference: chr 17
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13757C>A
  hgvsp: ENSP00000464087.1:p.Thr4586Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26132G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1555C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3086C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7976C>A
  hgvsp: ENSP00000338218.6:p.Thr2659Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13904C>A
  hgvsp: ENSP00000425956.2:p.Thr4635Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25659G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40049
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr4586Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-78354753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354753
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354753
    reference: chr 17
allele count: 2
allele frequency: 1.649702228747711e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1561T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3092T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13763T>C
  hgvsp: ENSP00000464087.1:p.Leu4588Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7982T>C
  hgvsp: ENSP00000338218.6:p.Leu2661Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26138A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25665A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13910T>C
  hgvsp: ENSP00000425956.2:p.Leu4637Ser
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40049
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu4588Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-78354756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354756
    reference: chr 17
allele count: 808
allele frequency: 6.666006666006666e-3
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13766C>T
  hgvsp: ENSP00000464087.1:p.Ala4589Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3095C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1564C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25668G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26141G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7985C>T
  hgvsp: ENSP00000338218.6:p.Ala2662Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13913C>T
  hgvsp: ENSP00000425956.2:p.Ala4638Val
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40055
  bin: 9.75e1
  variant carriers: 636
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala4589Val
num of homozygotes: 27
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-78354758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354758
    reference: chr 17
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3097C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13768C>T
  hgvsp: ENST00000582970.1:c.13768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25670G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1566C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.7987C>T
  hgvsp: ENST00000336301.6:c.7987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26143G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13915C>T
  hgvsp: ENST00000508628.2:c.13915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39840
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu4590Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-78354772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354772
    reference: chr 17
allele count: 390
allele frequency: 3.221330161562097e-3
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26157C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25684C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13929G>A
  hgvsp: ENST00000508628.2:c.13929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13782G>A
  hgvsp: ENST00000582970.1:c.13782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8001G>A
  hgvsp: ENST00000336301.6:c.8001G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3111G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1580G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39967
  bin: 9.75e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56522
  bin: 9.75e1
  variant carriers: 388
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala4594Ala
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-78354773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354773
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354773
    reference: chr 17
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3112T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26158A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25685A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13783T>C
  hgvsp: ENSP00000464087.1:p.Ser4595Pro
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1581T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13930T>C
  hgvsp: ENSP00000425956.2:p.Ser4644Pro
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8002T>C
  hgvsp: ENSP00000338218.6:p.Ser2668Pro
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser4595Pro
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-78354778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354778
    reference: chr 17
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13935G>C
  hgvsp: ENSP00000425956.2:p.Gln4645His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13788G>C
  hgvsp: ENSP00000464087.1:p.Gln4596His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1586G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25690C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26163C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3117G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8007G>C
  hgvsp: ENSP00000338218.6:p.Gln2669His
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln4596His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-78354780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354780
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354780
    reference: chr 17
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13790G>A
  hgvsp: ENSP00000464087.1:p.Ser4597Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26165C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8009G>A
  hgvsp: ENSP00000338218.6:p.Ser2670Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25692C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1588G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3119G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13937G>A
  hgvsp: ENSP00000425956.2:p.Ser4646Asn
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser4597Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

17-78354783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354783
    reference: chr 17
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1591C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13793C>T
  hgvsp: ENSP00000464087.1:p.Ser4598Phe
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8012C>T
  hgvsp: ENSP00000338218.6:p.Ser2671Phe
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25695G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3122C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13940C>T
  hgvsp: ENSP00000425956.2:p.Ser4647Phe
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26168G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser4598Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-78354783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354783
    reference: chr 17
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25695G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13793C>G
  hgvsp: ENSP00000464087.1:p.Ser4598Cys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8012C>G
  hgvsp: ENSP00000338218.6:p.Ser2671Cys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1591C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3122C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26168G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13940C>G
  hgvsp: ENSP00000425956.2:p.Ser4647Cys
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser4598Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78354787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354787
    reference: chr 17
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016G>T
  hgvsp: ENSP00000338218.6:p.Gln2672His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26172C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25699C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797G>T
  hgvsp: ENSP00000464087.1:p.Gln4599His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944G>T
  hgvsp: ENSP00000425956.2:p.Gln4648His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595G>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln4599His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-78354790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354790
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354790
    reference: chr 17
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+3A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25702T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26175T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+3A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+3A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+3A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+3A>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
hgvs: c.13797+3A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

17-78354807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354807
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354807
    reference: chr 17
allele count: 29
allele frequency: 2.400304590375606e-4
allele num: 120818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26192T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+20A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+20A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25719T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.519T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+20A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+20A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+20A>G
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39864
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78354811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354811
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354811
    reference: chr 17
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+24A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25723T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.515T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+24A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+24A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+24A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26196T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+24A>G
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS

17-78354817-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354817
    reference: chr 17
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25729A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+30T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+30T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+30T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+30T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.509A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+30T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26202A>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-78354818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354818
    reference: chr 17
allele count: 3
allele frequency: 2.485707183693761e-5
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.508G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26203G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25730G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+31C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-78354819-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354819
    reference: chr 17
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.507T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+32A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25731T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+32A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+32A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+32A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26204T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+32A>C
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-78354820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354820
    reference: chr 17
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26205C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+33G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+33G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.506C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+33G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25732C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+33G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+33G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

17-78354825-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354825
    reference: chr 17
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26210C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.501C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25737C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+38G>C
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-78354828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354828
    reference: chr 17
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+41C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.498G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+41C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26213G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25740G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+41C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+41C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+41C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-78354836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354836
    reference: chr 17
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+49C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.490G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+49C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26221G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+49C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+49C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+49C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25748G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78354837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78354837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78354837
    reference: chr 17
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13797+50G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.489C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-25749C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13944+50G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3126+50G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8016+50G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1595+50G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26222C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

17-78355296-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355296
    reference: chr 17
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-51T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-51T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-51T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-51T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26681A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-51T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26208A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-211A>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-78355300-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355300
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355300
    reference: chr 17
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26685G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-47C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-47C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-47C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-215G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26212G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-47C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-47C>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5295
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-78355312-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355312
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26224A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26697A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-35T>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-35T>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-35T>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-35T>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-227A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-35T>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-78355313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355313
    reference: chr 17
allele count: 5
allele frequency: 4.1209244057627e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-34C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26698G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-34C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-228G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-34C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26225G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-34C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-34C>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-78355313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355313
    reference: chr 17
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26698G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-34C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-228G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-34C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-34C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-34C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26225G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-34C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8534
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-78355316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355316
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355316
    reference: chr 17
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-231G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26701G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-31C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26228G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-78355317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355317
    reference: chr 17
allele count: 6
allele frequency: 4.944946264917255e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-30G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-30G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26229C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-30G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-232C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26702C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-30G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-30G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

17-78355320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355320
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-27G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-235C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-27G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26232C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-27G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26705C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-27G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-27G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-78355320-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355320
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26705C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-27G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-27G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-27G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-235C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-27G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26232C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-27G>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-78355333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355333
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355333
    reference: chr 17
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-14C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-14C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26718G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-248G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-14C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26245G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-14C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-14C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-78355334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355334
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355334
    reference: chr 17
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-13G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-13G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-13G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-249C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-13G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26719C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26246C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-13G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78355337-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355338
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-253dupG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26250dupG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-5dupC
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-5dupC
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26723dupG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-5dupC
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-5dupC
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-5dupC
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-78355337-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355337
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26722C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-10G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-10G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26249C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-10G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-10G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-252C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-10G>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/17-78355338-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355338
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-9C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-9C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26250G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-253G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-9C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-9C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-9C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26723G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-78355339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355339
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355339
    reference: chr 17
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26724G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-8C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26251G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-8C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-254G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-8C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-8C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-8C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: c.13798-8C>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-78355344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355344
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-259G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26729G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-3C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-3C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-3C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-3C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-3C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26256G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
hgvs: c.13798-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

17-78355346-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355346
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26258C>A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-1G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-1G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26731C>A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-1G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-1G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-1G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-261C>A
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37419
  bin: 6.25e1
  variant carriers: 0
hgvs: c.13798-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-78355346-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355346
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-261C>G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1596-1G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8017-1G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3127-1G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13798-1G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13945-1G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26258C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26731C>G
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
hgvs: c.13798-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-78355348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355348
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355348
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3128C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26733G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8018C>T
  hgvsp: ENSP00000338218.6:p.Ala2673Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-263G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13799C>T
  hgvsp: ENSP00000464087.1:p.Ala4600Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26260G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13946C>T
  hgvsp: ENSP00000425956.2:p.Ala4649Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1597C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala4600Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-78355365-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355365
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355365
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8035A>T
  hgvsp: ENSP00000338218.6:p.Lys2679Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1614A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26750T>A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13816A>T
  hgvsp: ENSP00000464087.1:p.Lys4606Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26277T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-280T>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13963A>T
  hgvsp: ENSP00000425956.2:p.Lys4655Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3145A>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys4606Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-78355374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355374
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355374
    reference: chr 17
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26286C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13825G>A
  hgvsp: ENSP00000464087.1:p.Val4609Met
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1623G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-289C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13972G>A
  hgvsp: ENSP00000425956.2:p.Val4658Met
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8044G>A
  hgvsp: ENSP00000338218.6:p.Val2682Met
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3154G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26759C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val4609Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-78355390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355390
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1639G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3170G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13841G>A
  hgvsp: ENSP00000464087.1:p.Gly4614Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26302C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26775C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13988G>A
  hgvsp: ENSP00000425956.2:p.Gly4663Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8060G>A
  hgvsp: ENSP00000338218.6:p.Gly2687Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-305C>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly4614Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-78355399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355399
    reference: chr 17
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13850A>G
  hgvsp: ENSP00000464087.1:p.Gln4617Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8069A>G
  hgvsp: ENSP00000338218.6:p.Gln2690Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-314T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26311T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1648A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3179A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26784T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.13997A>G
  hgvsp: ENSP00000425956.2:p.Gln4666Arg
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln4617Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-78355409-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355409
    reference: chr 17
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14007C>A
  hgvsp: ENST00000508628.2:c.14007C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26321G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26794G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13860C>A
  hgvsp: ENST00000582970.1:c.13860C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8079C>A
  hgvsp: ENST00000336301.6:c.8079C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3189C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1658C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-324G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile4620Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

17-78355412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355412
    reference: chr 17
allele count: 398
allele frequency: 3.279174768480375e-3
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14010G>A
  hgvsp: ENST00000508628.2:c.14010G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1661G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13863G>A
  hgvsp: ENST00000582970.1:c.13863G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8082G>A
  hgvsp: ENST00000336301.6:c.8082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26797C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26324C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-327C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3192G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 28179
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 174
genotype quality: GenotypeQuality
  all individuals: 37439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu4621Leu
num of homozygotes: 12
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/17-78355414-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355414
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14012A>C
  hgvsp: ENSP00000425956.2:p.Lys4671Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1663A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8084A>C
  hgvsp: ENSP00000338218.6:p.Lys2695Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26799T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-329T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26326T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13865A>C
  hgvsp: ENSP00000464087.1:p.Lys4622Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3194A>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys4622Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-78355422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355422
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8092G>A
  hgvsp: ENSP00000338218.6:p.Glu2698Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26334C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-337C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1671G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26807C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13873G>A
  hgvsp: ENSP00000464087.1:p.Glu4625Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3202G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14020G>A
  hgvsp: ENSP00000425956.2:p.Glu4674Lys
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu4625Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-78355424-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355424
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355424
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1673G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26809C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13875G>C
  hgvsp: ENSP00000464087.1:p.Glu4625Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3204G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-339C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26336C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8094G>C
  hgvsp: ENSP00000338218.6:p.Glu2698Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14022G>C
  hgvsp: ENSP00000425956.2:p.Glu4674Asp
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu4625Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78355428-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355428
    reference: chr 17
allele count: 18
allele frequency: 1.483361627082887e-4
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13879T>G
  hgvsp: ENSP00000464087.1:p.Leu4627Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3208T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1677T>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-343A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26813A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8098T>G
  hgvsp: ENSP00000338218.6:p.Leu2700Val
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26340A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14026T>G
  hgvsp: ENSP00000425956.2:p.Leu4676Val
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu4627Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-78355448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355448
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355448
    reference: chr 17
allele count: 9
allele frequency: 7.425497508333058e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26833G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8118C>T
  hgvsp: ENST00000336301.6:c.8118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14046C>T
  hgvsp: ENST00000508628.2:c.14046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26360G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1697C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-363G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13899C>T
  hgvsp: ENST00000582970.1:c.13899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3228C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His4633His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

17-78355455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355455
    reference: chr 17
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-370C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13906G>A
  hgvsp: ENSP00000464087.1:p.Asp4636Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8125G>A
  hgvsp: ENSP00000338218.6:p.Asp2709Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26367C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3235G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26840C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1704G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14053G>A
  hgvsp: ENSP00000425956.2:p.Asp4685Asn
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37526
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp4636Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-78355457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355457
    reference: chr 17
allele count: 2
allele frequency: 1.653111155194075e-5
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8127C>T
  hgvsp: ENST00000336301.6:c.8127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13908C>T
  hgvsp: ENST00000582970.1:c.13908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3237C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14055C>T
  hgvsp: ENST00000508628.2:c.14055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1706C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26369G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26842G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-372G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp4636Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-78355460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355460
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355460
    reference: chr 17
allele count: 2
allele frequency: 1.654506047219603e-5
allele num: 120882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13911G>A
  hgvsp: ENST00000582970.1:c.13911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26372C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-375C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3240G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14058G>A
  hgvsp: ENST00000508628.2:c.14058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26845C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8130G>A
  hgvsp: ENST00000336301.6:c.8130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1709G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27926
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu4637Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-78355462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355462
    reference: chr 17
allele count: 76
allele frequency: 6.289516369293919e-4
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13913C>T
  hgvsp: ENSP00000464087.1:p.Thr4638Ile
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26847G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3242C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8132C>T
  hgvsp: ENSP00000338218.6:p.Thr2711Ile
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26374G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14060C>T
  hgvsp: ENSP00000425956.2:p.Thr4687Ile
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-377G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1711C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 27862
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr4638Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-78355466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355466
    reference: chr 17
allele count: 5
allele frequency: 4.144150117693863e-5
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14064C>T
  hgvsp: ENST00000508628.2:c.14064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13917C>T
  hgvsp: ENST00000582970.1:c.13917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26851G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1715C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8136C>T
  hgvsp: ENST00000336301.6:c.8136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3246C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26378G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-381G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8205
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile4639Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-78355467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355467
    reference: chr 17
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14065G>A
  hgvsp: ENSP00000425956.2:p.Gly4689Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8137G>A
  hgvsp: ENSP00000338218.6:p.Gly2713Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13918G>A
  hgvsp: ENSP00000464087.1:p.Gly4640Ser
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26852C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26379C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3247G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1716G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly4640Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-78355469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78355469
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78355469
    reference: chr 17
allele count: 2
allele frequency: 1.659255326209597e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-26381G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.14067C>T
  hgvsp: ENST00000508628.2:c.14067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000411702
  gene symbol: RNF213
  hgvsc: ENST00000411702.3:n.1718C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000573394
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000573394.1:n.241-384G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.8139C>T
  hgvsp: ENST00000336301.6:c.8139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.3249C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.13920C>T
  hgvsp: ENST00000582970.1:c.13920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-26854G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly4640Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 6.692846e6

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.375e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.204e1

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

GenotypeQuality
all individuals: 622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 6.692764e6

InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
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SIO_000300: 3.126e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
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SIO_000300: 2.45e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
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ReadPosRankSum
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SIO_000300: -8.22e-1

InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
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DP
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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MQ
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FS
type: SiteQuality
SIO_000300: 3.305e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
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SIO_000300: 2.16e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

East Asian
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allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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SIO_000300: 6.7e-1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.692608e6

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.9192e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: -4.85e-1

FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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

African
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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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East 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: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

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

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

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

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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South Asian
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allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499505054444011e-5
allele num: 66674
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.205e1

DP
type: SiteQuality
SIO_000300: 6.690374e6

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56597
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

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

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

Other
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: 8646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 6.687607e6

FS
type: SiteQuality
SIO_000300: 1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56597
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variant carriers: 2

GenotypeQuality
all individuals: 1964
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variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

DP
type: SiteQuality
SIO_000300: 6.686572e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 12
bin: 4.75e1
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GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56648
bin: 9.75e1
variant carriers: 781

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.002912825440677e-4
allele num: 66602
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 33
allele frequency: 2.851218247796786e-3
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 754
allele frequency: 7.276587531364602e-2
allele num: 10362
num of homozygotes: 27

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

FS
type: SiteQuality
SIO_000300: 1.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.23e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.671e0

DP
type: SiteQuality
SIO_000300: 6.731996e6

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 6.608386e6

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.739000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

GenotypeQuality
all individuals: 417
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 283
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 120
allele frequency: 1.388246182322999e-2
allele num: 8644
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 36
allele frequency: 5.442999697611128e-3
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 1.157894736842105e-3
allele num: 66500
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.651884700665188e-3
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 143
allele frequency: 1.23574144486692e-2
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.644154e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.651e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

GenotypeQuality
all individuals: 1553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 56511
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 6.574534e6

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

FS
type: SiteQuality
SIO_000300: 3.115e0

QD
type: SiteQuality
SIO_000300: 1.29e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

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

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.42e-1

QD
type: SiteQuality
SIO_000300: 1.632e1

FS
type: SiteQuality
SIO_000300: 6.44e-1

DP
type: SiteQuality
SIO_000300: 6.57391e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 56511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 472
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GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.708e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 6.573486e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.011e0

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 1607
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.489e0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

DP
type: SiteQuality
SIO_000300: 6.572833e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 105
bin: 2.75e1
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 464
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variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

DP
type: SiteQuality
SIO_000300: 6.572833e6

FS
type: SiteQuality
SIO_000300: 3.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
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allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.712e0

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.876e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.492e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
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SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 6.57171e6

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

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10284
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.859999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
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SIO_000300: -1.631e0

DP
type: SiteQuality
SIO_000300: 6.57043e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.461e-1

FS
type: SiteQuality
SIO_000300: 2.975e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 28

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.412254251598118e-4
allele num: 66328
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

QD
type: SiteQuality
SIO_000300: 1.536e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 6.565162e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.419e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 6.561854e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 1.773e1

FS
type: SiteQuality
SIO_000300: 7.364e0

GenotypeQuality
all individuals: 216
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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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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.559742e6

FS
type: SiteQuality
SIO_000300: 7.971e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.29e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.496e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 1069
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.528301886792453e-5
allele num: 66250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 6.559097e6

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.435e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.558854e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 6.558448e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.296e1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510665296996797e-5
allele num: 66196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
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DP
type: SiteQuality
SIO_000300: 6.556346e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10162
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
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allele 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

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
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SIO_000300: -1.099e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.518326197200206e-5
allele num: 65862
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
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
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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SIO_000300: -4.0e-1

ClippingRankSum
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SIO_000300: -8.25e-1

BaseQRankSum
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SIO_000300: 5.21e0

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

African
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allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

South 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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 900
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.104e1

FS
type: SiteQuality
SIO_000300: 1.525e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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QD
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MQRankSum
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SIO_000300: 1.48e0

MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.74e-1

DP
type: SiteQuality
SIO_000300: 1.838646e6

FS
type: SiteQuality
SIO_000300: 1.9093e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.518e0

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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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

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

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

DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.935e1

FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 4.812319538017325e-4
allele num: 10390
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
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allele num: 66708
num of homozygotes: 0

South Asian
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FS
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SIO_000300: 4.946e0

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

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Latino
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African
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East Asian
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Other
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European (Finnish)
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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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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

East Asian
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allele count: 4
allele frequency: 4.628558204119417e-4
allele num: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 1.841169e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 1.841331e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.059e1

MQRankSum
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SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

FS
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

DP
type: SiteQuality
SIO_000300: 1.841331e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.821e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 1.842344e6

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 37393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2621
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GenotypeQuality
all individuals: 1891
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.854e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.912e0

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.842421e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.053e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.675e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 8654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.675e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.053e1

DP
type: SiteQuality
SIO_000300: 1.842316e6

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.413e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 3.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.842396e6

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 1.84249e6

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.84249e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: -2.875e0

QD
type: SiteQuality
SIO_000300: 9.31e0

FS
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.84247e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 3.333e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.492e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.842569e6

VQSLOD
type: SiteQuality
SIO_000300: -3.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.421e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

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

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.54e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.842098e6

VQSLOD
type: SiteQuality
SIO_000300: -2.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

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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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

East 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: 10404
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
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allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

South Asian
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East Asian
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African
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.167e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 8536
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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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variant carriers: 386

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 386
allele frequency: 2.338260237460625e-2
allele num: 16508
num of homozygotes: 12

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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Other
type: Population
allele count: 1
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allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.992266650680415e-5
allele num: 66724
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.855978e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.803e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

FS
type: SiteQuality
SIO_000300: 1.157e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

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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bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.021e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.77e-1

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 3.206e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

DP
type: SiteQuality
SIO_000300: 1.823178e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.526e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.186e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.822987e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.113e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99610253335332e-5
allele num: 66710
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 7.874969711654955e-4
allele num: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 1.82285e6

FS
type: SiteQuality
SIO_000300: 1.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.33e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

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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variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.245511887433285e-4
allele num: 16488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

DP
type: SiteQuality
SIO_000300: 1.816101e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

FS
type: SiteQuality
SIO_000300: 5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.811066e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -1.773e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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allele num: 10380
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 1
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allele num: 66564
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
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East Asian
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DP
type: SiteQuality
SIO_000300: 1.807336e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

InbreedingCoeff
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

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

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

South Asian
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East Asian
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allele num: 8634
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African
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

Other
type: Population
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allele num: 900
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FS
type: SiteQuality
SIO_000300: 1.2108e1

DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

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

South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 7
allele frequency: 6.082725060827251e-4
allele num: 11508
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European (Finnish)
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allele count: 1
allele frequency: 1.535155050660117e-4
allele num: 6514
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European (Non-Finnish)
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allele count: 65
allele frequency: 9.775318073811171e-4
allele num: 66494
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Other
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allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 36826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 702
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.021919788028423e-5
allele num: 66424
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

DP
type: SiteQuality
SIO_000300: 1.794398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 5.578e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 8186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4811
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37056
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.958e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.793177e6

QD
type: SiteQuality
SIO_000300: 1.538e1

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

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

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36860
bin: 6.25e1
variant carriers: 0