17-6919830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919830
    reference: chr 17
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.157A>G
  hgvsp: ENSP00000447063.1:p.Thr53Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.235A>G
  hgvsp: ENSP00000448598.1:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.50A>G
  hgvsp: ENSP00000468587.1:p.Thr18Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.235A>G
  hgvsp: ENSP00000447646.1:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.235A>G
  hgvsp: ENSP00000411851.2:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1123A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.188A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.133A>G
  hgvsp: ENSP00000448746.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3149T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+558T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.357A>G
  hgvsp: ENSP00000450085.1:p.Thr120Ala
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.574-497T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1575A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.76A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1335A>G
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr79Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

17-6919839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919839
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.244C>T
  hgvsp: ENSP00000448598.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.142C>T
  hgvsp: ENSP00000448746.1:p.Arg48Cys
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+549G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1584C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.244C>T
  hgvsp: ENSP00000447646.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.166C>T
  hgvsp: ENSP00000447063.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.197C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3140G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.366C>T
  hgvsp: ENSP00000450085.1:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.574-506G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.244C>T
  hgvsp: ENSP00000411851.2:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1132C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.85C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.59C>T
  hgvsp: ENSP00000468587.1:p.Arg21Cys
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1344C>T
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg82Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-6919840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919840
    reference: chr 17
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1345G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.367G>A
  hgvsp: ENSP00000450085.1:p.Arg123His
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.143G>A
  hgvsp: ENSP00000448746.1:p.Arg48His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.245G>A
  hgvsp: ENSP00000411851.2:p.Arg82His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.167G>A
  hgvsp: ENSP00000447063.1:p.Arg56His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.245G>A
  hgvsp: ENSP00000447646.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.245G>A
  hgvsp: ENSP00000448598.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1585G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.198G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3139C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1133G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+548C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.86G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.60G>A
  hgvsp: ENSP00000468587.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.574-507C>T
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg82His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-6919843-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919843
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919843
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.574-510T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.146A>G
  hgvsp: ENSP00000448746.1:p.Lys49Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.89A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.248A>G
  hgvsp: ENSP00000448598.1:p.Lys83Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.370A>G
  hgvsp: ENSP00000450085.1:p.Lys124Arg
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.248A>G
  hgvsp: ENSP00000411851.2:p.Lys83Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.170A>G
  hgvsp: ENSP00000447063.1:p.Lys57Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1348A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.248A>G
  hgvsp: ENSP00000447646.1:p.Lys83Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3136T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.63A>G
  hgvsp: ENSP00000468587.1:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1136A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+545T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.201A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1588A>G
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys83Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

17-6919851-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919851
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.256G>C
  hgvsp: ENSP00000448598.1:p.Glu86Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.256G>C
  hgvsp: ENSP00000411851.2:p.Glu86Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.574-518C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1596G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.378G>C
  hgvsp: ENSP00000450085.1:p.Glu127Gln
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1144G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.154G>C
  hgvsp: ENSP00000448746.1:p.Glu52Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.97G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.178G>C
  hgvsp: ENSP00000447063.1:p.Glu60Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.256G>C
  hgvsp: ENSP00000447646.1:p.Glu86Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+537C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.209G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3128C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1356G>C
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu86Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-6919866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919866
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.193C>T
  hgvsp: ENSP00000447063.1:p.Pro65Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+22C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1371C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.271C>T
  hgvsp: ENSP00000411851.2:p.Pro91Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.224C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.169C>T
  hgvsp: ENSP00000448746.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.393C>T
  hgvsp: ENSP00000450085.1:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3113G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.271C>T
  hgvsp: ENSP00000448598.1:p.Pro91Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1159C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.271C>T
  hgvsp: ENSP00000447646.1:p.Pro91Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+522G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.112C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+522G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1611C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro91Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-6919874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919874
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1167A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.279A>G
  hgvsp: ENST00000546760.1:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.279A>G
  hgvsp: ENST00000546495.1:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.401A>G
  hgvsp: ENST00000547302.2:c.401A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+514T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.177A>G
  hgvsp: ENST00000552402.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1619A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3105T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.279A>G
  hgvsp: ENST00000439424.2:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.201A>G
  hgvsp: ENST00000552775.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1379A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+514T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.232A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+30A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.120A>G
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro93Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-6919881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919881
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.408T>C
  hgvsp: ENSP00000450085.1:p.Ser137Pro
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.286T>C
  hgvsp: ENSP00000447646.1:p.Ser96Pro
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.184T>C
  hgvsp: ENSP00000448746.1:p.Ser62Pro
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.127T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1386T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.286T>C
  hgvsp: ENSP00000448598.1:p.Ser96Pro
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.286T>C
  hgvsp: ENSP00000411851.2:p.Ser96Pro
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1174T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.208T>C
  hgvsp: ENSP00000447063.1:p.Ser70Pro
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.239T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+37T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+507A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1626T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+507A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3098A>G
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser96Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-6919882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919882
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.185C>T
  hgvsp: ENSP00000448746.1:p.Ser62Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3097G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.287C>T
  hgvsp: ENSP00000447646.1:p.Ser96Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.409C>T
  hgvsp: ENSP00000450085.1:p.Ser137Leu
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1627C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+506G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.240C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1175C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.287C>T
  hgvsp: ENSP00000448598.1:p.Ser96Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.128C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+506G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.209C>T
  hgvsp: ENSP00000447063.1:p.Ser70Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+38C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.287C>T
  hgvsp: ENSP00000411851.2:p.Ser96Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1387C>T
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser96Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

17-6919895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919895
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.222G>A
  hgvsp: ENST00000552775.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.300G>A
  hgvsp: ENST00000439424.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1188G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.422G>A
  hgvsp: ENST00000547302.2:c.422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1400G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+493C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.253G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1640G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.198G>A
  hgvsp: ENST00000552402.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.141G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+51G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.300G>A
  hgvsp: ENST00000546760.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3084C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.300G>A
  hgvsp: ENST00000546495.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+493C>T
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly100Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-6919914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919914
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919914
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.319G>A
  hgvsp: ENSP00000411851.2:p.Gly107Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+474C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1659G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.441G>A
  hgvsp: ENSP00000450085.1:p.Gly148Ser
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+474C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.160G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.241G>A
  hgvsp: ENSP00000447063.1:p.Gly81Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.319G>A
  hgvsp: ENSP00000447646.1:p.Gly107Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.217G>A
  hgvsp: ENSP00000448746.1:p.Gly73Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.319G>A
  hgvsp: ENSP00000448598.1:p.Gly107Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1207G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3065C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.272G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1419G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+70G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly107Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-6919919-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919919
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3060G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.165C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1212C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+75C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.324C>A
  hgvsp: ENST00000546760.1:c.324C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1664C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.222C>A
  hgvsp: ENST00000552402.1:c.222C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.246C>A
  hgvsp: ENST00000552775.1:c.246C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+469G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.324C>A
  hgvsp: ENST00000439424.2:c.324C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.446C>A
  hgvsp: ENST00000547302.2:c.446C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+469G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.324C>A
  hgvsp: ENST00000546495.1:c.324C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1424C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.277C>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val108Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-6919925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919925
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.171A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1430A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1218A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+81A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.330A>G
  hgvsp: ENST00000439424.2:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+463T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.228A>G
  hgvsp: ENST00000552402.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3054T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.330A>G
  hgvsp: ENST00000546760.1:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.252A>G
  hgvsp: ENST00000552775.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.283A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.452A>G
  hgvsp: ENST00000547302.2:c.452A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1670A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+463T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.330A>G
  hgvsp: ENST00000546495.1:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser110Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-6919925-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919922
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1676_1678delTCC
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.289_291delTCC
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.336_338delTCC
  hgvsp: ENSP00000448598.1:p.Pro113del
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.258_260delTCC
  hgvsp: ENSP00000447063.1:p.Pro87del
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+87_64+89delTCC
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.336_338delTCC
  hgvsp: ENSP00000447646.1:p.Pro113del
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.458_460delTCC
  hgvsp: ENSP00000450085.1:p.Pro154del
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.234_236delTCC
  hgvsp: ENSP00000448746.1:p.Pro79del
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.336_338delTCC
  hgvsp: ENSP00000411851.2:p.Pro113del
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+460_573+462delAGG
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1224_1226delTCC
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+460_357+462delAGG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3051_3053delAGG
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.177_179delTCC
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1436_1438delTCC
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro113del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: ACCT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

17-6919928-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919928
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.255T>A
  hgvsp: ENST00000552775.1:c.255T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.333T>A
  hgvsp: ENST00000546760.1:c.333T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1221T>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.231T>A
  hgvsp: ENST00000552402.1:c.231T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1673T>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.333T>A
  hgvsp: ENST00000546495.1:c.333T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+84T>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.174T>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.333T>A
  hgvsp: ENST00000439424.2:c.333T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3051A>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1433T>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+460A>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.455T>A
  hgvsp: ENST00000547302.2:c.455T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+460A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.286T>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro111Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-6919933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919933
    reference: chr 17
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.338C>A
  hgvsp: ENSP00000411851.2:p.Pro113Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1226C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.460C>A
  hgvsp: ENSP00000450085.1:p.Pro154Gln
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.338C>A
  hgvsp: ENSP00000448598.1:p.Pro113Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.338C>A
  hgvsp: ENSP00000447646.1:p.Pro113Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.236C>A
  hgvsp: ENSP00000448746.1:p.Pro79Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+455G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3046G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.260C>A
  hgvsp: ENSP00000447063.1:p.Pro87Gln
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+455G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.179C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1678C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1438C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.291C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+89C>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro113Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-6919941-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919941
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919941
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.299C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.268C>G
  hgvsp: ENSP00000447063.1:p.Pro90Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.346C>G
  hgvsp: ENSP00000411851.2:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.346C>G
  hgvsp: ENSP00000447646.1:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.346C>G
  hgvsp: ENSP00000448598.1:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1234C>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.244C>G
  hgvsp: ENSP00000448746.1:p.Pro82Ala
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.468C>G
  hgvsp: ENSP00000450085.1:p.Pro157Ala
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+97C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+447G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1446C>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+447G>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1686C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3038G>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.187C>G
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro116Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-6919942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919942
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919942
    reference: chr 17
allele count: 61
allele frequency: 5.026699189135738e-4
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.347C>T
  hgvsp: ENSP00000448598.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3037G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.188C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.269C>T
  hgvsp: ENSP00000447063.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+446G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1447C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.300C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.347C>T
  hgvsp: ENSP00000447646.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.469C>T
  hgvsp: ENSP00000450085.1:p.Pro157Leu
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.245C>T
  hgvsp: ENSP00000448746.1:p.Pro82Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.347C>T
  hgvsp: ENSP00000411851.2:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1687C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1235C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+446G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+98C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro116Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-6919953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919953
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919953
    reference: chr 17
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3026T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1458A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+109A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+435T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1246A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.311A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1698A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+435T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.256A>G
  hgvsp: ENSP00000448746.1:p.Ser86Gly
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.358A>G
  hgvsp: ENSP00000448598.1:p.Ser120Gly
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.358A>G
  hgvsp: ENSP00000447646.1:p.Ser120Gly
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.358A>G
  hgvsp: ENSP00000411851.2:p.Ser120Gly
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.199A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.480A>G
  hgvsp: ENSP00000450085.1:p.Ser161Gly
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.280A>G
  hgvsp: ENSP00000447063.1:p.Ser94Gly
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser120Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

17-6919970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919970
    reference: chr 17
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1263G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.375G>C
  hgvsp: ENSP00000448598.1:p.Glu125Asp
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1475G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.216G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+126G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.273G>C
  hgvsp: ENSP00000448746.1:p.Glu91Asp
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.497G>C
  hgvsp: ENSP00000450085.1:p.Glu166Asp
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+418C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.375G>C
  hgvsp: ENSP00000447646.1:p.Glu125Asp
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+418C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1715G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.328G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3009C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.297G>C
  hgvsp: ENSP00000447063.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.375G>C
  hgvsp: ENSP00000411851.2:p.Glu125Asp
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu125Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-6919973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919973
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919973
    reference: chr 17
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1266C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.378C>T
  hgvsp: ENST00000546760.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+415G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1478C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.276C>T
  hgvsp: ENST00000552402.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1718C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.331C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.219C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.378C>T
  hgvsp: ENST00000439424.2:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.300C>T
  hgvsp: ENST00000552775.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.378C>T
  hgvsp: ENST00000546495.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+129C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.500C>T
  hgvsp: ENST00000547302.2:c.500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3006G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+415G>A
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala126Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

17-6919973-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919973
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919973
    reference: chr 17
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.378C>G
  hgvsp: ENST00000546760.1:c.378C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.500C>G
  hgvsp: ENST00000547302.2:c.500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.378C>G
  hgvsp: ENST00000439424.2:c.378C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.219C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+415G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+129C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.276C>G
  hgvsp: ENST00000552402.1:c.276C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.378C>G
  hgvsp: ENST00000546495.1:c.378C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.300C>G
  hgvsp: ENST00000552775.1:c.300C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1266C>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1718C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.331C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1478C>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+415G>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3006G>C
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala126Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

17-6919974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919974
    reference: chr 17
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.379G>A
  hgvsp: ENSP00000447646.1:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.220G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+414C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.277G>A
  hgvsp: ENSP00000448746.1:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+414C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1719G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.301G>A
  hgvsp: ENSP00000447063.1:p.Gly101Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.379G>A
  hgvsp: ENSP00000448598.1:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1479G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.379G>A
  hgvsp: ENSP00000411851.2:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.501G>A
  hgvsp: ENSP00000450085.1:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+130G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1267G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.3005C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.332G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly127Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-6919981-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919981
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919981
    reference: chr 17
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.386C>G
  hgvsp: ENSP00000411851.2:p.Pro129Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1726C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.386C>G
  hgvsp: ENSP00000448598.1:p.Pro129Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+407G>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.308C>G
  hgvsp: ENSP00000447063.1:p.Pro103Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+137C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.339C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+407G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.508C>G
  hgvsp: ENSP00000450085.1:p.Pro170Arg
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1274C>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.386C>G
  hgvsp: ENSP00000447646.1:p.Pro129Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1486C>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.227C>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.284C>G
  hgvsp: ENSP00000448746.1:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2998G>C
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro129Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-6919981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919981
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919981
    reference: chr 17
allele count: 2
allele frequency: 1.654752449033625e-5
allele num: 120864
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.508C>T
  hgvsp: ENSP00000450085.1:p.Pro170Leu
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.386C>T
  hgvsp: ENSP00000447646.1:p.Pro129Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.386C>T
  hgvsp: ENSP00000411851.2:p.Pro129Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.386C>T
  hgvsp: ENSP00000448598.1:p.Pro129Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.308C>T
  hgvsp: ENSP00000447063.1:p.Pro103Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+407G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+137C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.227C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+407G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.284C>T
  hgvsp: ENSP00000448746.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1486C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1726C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1274C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2998G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.339C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro129Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-6919985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919985
    reference: chr 17
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.390C>T
  hgvsp: ENST00000546760.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.288C>T
  hgvsp: ENST00000552402.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1730C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.343C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+403G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1278C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.231C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.512C>T
  hgvsp: ENST00000547302.2:c.512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.390C>T
  hgvsp: ENST00000439424.2:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1490C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+403G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+141C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.312C>T
  hgvsp: ENST00000552775.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.390C>T
  hgvsp: ENST00000546495.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2994G>A
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro130Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-6919986-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6919986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6919986
    reference: chr 17
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2993T>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1491A>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.232A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.391A>C
  hgvsp: ENSP00000448598.1:p.Ile131Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+142A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+402T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.313A>C
  hgvsp: ENSP00000447063.1:p.Ile105Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.391A>C
  hgvsp: ENSP00000411851.2:p.Ile131Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.289A>C
  hgvsp: ENSP00000448746.1:p.Ile97Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.344A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.391A>C
  hgvsp: ENSP00000447646.1:p.Ile131Leu
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1731A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.513A>C
  hgvsp: ENSP00000450085.1:p.Ile172Leu
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+402T>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1279A>C
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile131Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-6920003-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920004
    reference: chr 17
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+1dupG
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+384dupC
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+1dupG
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+384dupC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+1dupG
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+1dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2975dupC
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+161dupG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1750dupG
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-6920005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920005
    reference: chr 17
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+1G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+383C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+161G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+383C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2974C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+1G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+1G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1750G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+1G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.531+1G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-6920006-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920006
    reference: chr 17
allele count: 1
allele frequency: 8.331666999933347e-6
allele num: 120024
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+382A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1751T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+382A>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+2T>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2973A>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+2T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+162T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+2T>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+2T>G
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.531+2T>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-6920011-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920011
    reference: chr 17
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2968C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+7G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1756G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+7G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+377C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+7G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+167G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+7G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+377C>G
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.531+7G>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-6920014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920014
    reference: chr 17
allele count: 3
allele frequency: 2.507899884636605e-5
allele num: 119622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+170G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1759G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+374C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2965C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+374C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+10G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+10G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+10G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+10G>A
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-6920015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920015
    reference: chr 17
allele count: 3
allele frequency: 2.511090650372478e-5
allele num: 119470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+171T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2964A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+11T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+373A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1760T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+11T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+11T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+11T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+373A>G
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-6920020-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920020
    reference: chr 17
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1765T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+16T>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+16T>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+16T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2959A>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+16T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+16T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+368A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+176T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+16T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+16T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+16T>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+368A>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+16T>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+16T>G
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-6920033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920033
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920033
    reference: chr 17
allele count: 1
allele frequency: 8.441098018030185e-6
allele num: 118468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+29G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+29G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1778G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+29G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+29G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+29G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+355C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.64+189G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+29G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+29G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2946C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+29G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+355C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+29G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+29G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-6920039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920039
    reference: chr 17
allele count: 1
allele frequency: 8.475150857685267e-6
allele num: 117992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-190G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+35G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+35G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+35G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+349C>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+35G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1784G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+35G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+349C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+35G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2940C>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+35G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+35G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+35G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+35G>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

17-6920040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920040
    reference: chr 17
allele count: 1
allele frequency: 8.475438180153914e-6
allele num: 117988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+36G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+36G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+36G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+36G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+36G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+36G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+36G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+348C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+348C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+36G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+36G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1785G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-189G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2939C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+36G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-6920044-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920044
    reference: chr 17
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+40C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+40C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+40C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+40C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+344G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+40C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+40C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+40C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2935G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+40C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1789C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+344G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-185C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+40C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+40C>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-6920044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920044
    reference: chr 17
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+40C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2935G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+344G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+40C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+40C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+40C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+40C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1789C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+40C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-185C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+40C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+40C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+40C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+344G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+40C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-6920045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920045
    reference: chr 17
allele count: 2
allele frequency: 1.70047783427143e-5
allele num: 117614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-184A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+41A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1790A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+343T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+41A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+343T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+41A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+41A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2934T>C
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-6920051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920051
    reference: chr 17
allele count: 1
allele frequency: 8.558126797206627e-6
allele num: 116848
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+47G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1796G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-178G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+47G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+337C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2928C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+337C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+47G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+47G>A
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-6920055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920055
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920055
    reference: chr 17
allele count: 1
allele frequency: 8.572212316554656e-6
allele num: 116656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-174T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.409+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.307+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.331+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.409+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+333A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.531+51T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2924A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1800T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1297+51T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+333A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.250+51T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1509+51T>C
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-6920186-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920186
    reference: chr 17
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-43G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-43G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2793C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-43G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-83G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-43G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-43G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-43G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-43G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+182G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1931G>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+202C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+202C>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-43G>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+182G>C
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-6920191-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920189
    reference: chr 17
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+188_409+189delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2786_2787delCT
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-37_1298-36delAG
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+188_362+189delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+195_357+196delCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-37_410-36delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-37_65-36delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-77_251-76delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-37_410-36delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-37_532-36delAG
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1937_1938delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-37_332-36delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-37_1510-36delAG
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-37_308-36delAG
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+195_573+196delCT
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: CAG
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

17-6920201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920201
    reference: chr 17
allele count: 2
allele frequency: 1.653493832468005e-5
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-28T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-28T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-68T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1946T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2778A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-28T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+197T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-28T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+197T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+187A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-28T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-28T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+187A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-28T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-28T>C
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-6920206-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920206
    reference: chr 17
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-23C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-23C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-23C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+182G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-23C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+202C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+182G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-23C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+202C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1951C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-23C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2773G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-23C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-23C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-63C>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

17-6920210-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920210
    reference: chr 17
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+206G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1955G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-59G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-19G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+178C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-19G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-19G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-19G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-19G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2769C>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+178C>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-19G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-19G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-19G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+206G>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-6920214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920214
    reference: chr 17
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-15A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-15A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-15A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-15A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-15A>G
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-15A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+210A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-15A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1959A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-55A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+174T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-15A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2765T>C
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+174T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+210A>G
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-6920219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920219
    reference: chr 17
allele count: 8
allele frequency: 6.609166914510426e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-50C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+169G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+169G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-10C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-10C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2760G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1964C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-10C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-10C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-10C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-10C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-10C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+215C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+215C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-10C>T
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-6920221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920221
    reference: chr 17
allele count: 2
allele frequency: 1.65218253312626e-5
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-8C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-8C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+217C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-8C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+167G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+217C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-8C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-8C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-8C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-48C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2758G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-8C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-8C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+167G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1966C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.532-8C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-6920224-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920224
    reference: chr 17
allele count: 4
allele frequency: 3.304255881575469e-5
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1969C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-45C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-5C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-5C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+164G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2755G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-5C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-5C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-5C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-5C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+164G>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+220C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+220C>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-5C>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-5C>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.532-5C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-6920225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920225
    reference: chr 17
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-4C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2754G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+163G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-4C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-44C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-4C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+163G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-4C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-4C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1970C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-4C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-4C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-4C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+221C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+221C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.532-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

17-6920228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920228
    reference: chr 17
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+160C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.532-1G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+224G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1298-1G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.410-1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2751C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.332-1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1510-1G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.308-1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1973G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.410-1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+224G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.65-1G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+160C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-41G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.532-1G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-6920234-ACACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920234
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920230
    reference: chr 17
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2741_2744delAGTG
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-32_251-29delCTCA
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.540_543delCTCA
  hgvsp: ENSP00000450085.1:p.Leu181ValfsTer3
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+150_573+153delAGTG
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.418_421delCTCA
  hgvsp: ENSP00000411851.2:p.Leu140ValfsTer3
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1982_1985delCTCA
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1306_1309delCTCA
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+233_362+236delCTCA
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+150_357+153delAGTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.340_343delCTCA
  hgvsp: ENSP00000447063.1:p.Leu114ValfsTer3
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.316_319delCTCA
  hgvsp: ENSP00000448746.1:p.Leu106ValfsTer3
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*3_*6delCTCA
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+233_409+236delCTCA
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.418_421delCTCA
  hgvsp: ENSP00000448598.1:p.Leu140ValfsTer3
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1518_1521delCTCA
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu140ValfsTer3
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: ACACT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-6920239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920239
    reference: chr 17
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1308C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.542C>T
  hgvsp: ENST00000547302.2:c.542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-30C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+149G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2740G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.318C>T
  hgvsp: ENST00000552402.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.420C>T
  hgvsp: ENST00000546495.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.420C>T
  hgvsp: ENST00000439424.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.342C>T
  hgvsp: ENST00000552775.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1520C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+235C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+149G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1984C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+235C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu140Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-6920243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920243
    reference: chr 17
allele count: 3
allele frequency: 2.477209671026556e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.546G>T
  hgvsp: ENSP00000450085.1:p.Ala183Ser
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.424G>T
  hgvsp: ENSP00000448598.1:p.Ala142Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1988G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.346G>T
  hgvsp: ENSP00000447063.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.322G>T
  hgvsp: ENSP00000448746.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1312G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+239G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-26G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1524G>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+145C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2736C>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+239G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*9G>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.424G>T
  hgvsp: ENSP00000411851.2:p.Ala142Ser
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+145C>A
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-6920244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920244
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920244
    reference: chr 17
allele count: 3
allele frequency: 2.477250582153887e-5
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.547C>T
  hgvsp: ENSP00000450085.1:p.Ala183Val
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.425C>T
  hgvsp: ENSP00000448598.1:p.Ala142Val
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.425C>T
  hgvsp: ENSP00000411851.2:p.Ala142Val
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.347C>T
  hgvsp: ENSP00000447063.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+240C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1313C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.323C>T
  hgvsp: ENSP00000448746.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+144G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1525C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2735G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+144G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-25C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1989C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+240C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-6920249-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920249
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920249
    reference: chr 17
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-20A>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+139T>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.430A>T
  hgvsp: ENSP00000411851.2:p.Asn144Tyr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+245A>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.430A>T
  hgvsp: ENSP00000448598.1:p.Asn144Tyr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.552A>T
  hgvsp: ENSP00000450085.1:p.Asn185Tyr
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1994A>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2730T>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1530A>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.328A>T
  hgvsp: ENSP00000448746.1:p.Asn110Tyr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+245A>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1318A>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.352A>T
  hgvsp: ENSP00000447063.1:p.Asn118Tyr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+139T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn144Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-6920252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920252
    reference: chr 17
allele count: 2
allele frequency: 1.651254953764861e-5
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1533G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2727C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+248G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.1997G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.355G>A
  hgvsp: ENSP00000447063.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.433G>A
  hgvsp: ENSP00000448598.1:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1321G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+136C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.331G>A
  hgvsp: ENSP00000448746.1:p.Asp111Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-17G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.433G>A
  hgvsp: ENSP00000411851.2:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+248G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+136C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.555G>A
  hgvsp: ENSP00000450085.1:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/44419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp145Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

17-6920257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920257
    reference: chr 17
allele count: 12375
allele frequency: 1.021477861788886e-1
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+253C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.336C>T
  hgvsp: ENST00000552402.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.560C>T
  hgvsp: ENST00000547302.2:c.560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+131G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.438C>T
  hgvsp: ENST00000439424.2:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.2002C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1326C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2722G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+253C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1538C>T
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+131G>A
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.360C>T
  hgvsp: ENST00000552775.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.438C>T
  hgvsp: ENST00000546495.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-12C>T
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10391
  bin: 9.75e1
  variant carriers: 9964
genotype quality: GenotypeQuality
hgvs: p.Ser146Ser
num of homozygotes: 1551
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

17-6920258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920258
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920258
    reference: chr 17
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.439G>A
  hgvsp: ENSP00000411851.2:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+130C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.561G>A
  hgvsp: ENSP00000450085.1:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+130C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.2003G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.337G>A
  hgvsp: ENSP00000448746.1:p.Asp113Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+254G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.439G>A
  hgvsp: ENSP00000448598.1:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2721C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1539G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.361G>A
  hgvsp: ENSP00000447063.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-11G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+254G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp147Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-6920260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920260
    reference: chr 17
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.441T>C
  hgvsp: ENST00000546495.1:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.563T>C
  hgvsp: ENST00000547302.2:c.563T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*26T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.2005T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1329T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.339T>C
  hgvsp: ENST00000552402.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1541T>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.441T>C
  hgvsp: ENST00000439424.2:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+128A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.363T>C
  hgvsp: ENST00000552775.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-9T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+256T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+256T>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2719A>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+128A>G
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp147Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

17-6920261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920261
    reference: chr 17
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.442G>A
  hgvsp: ENSP00000448598.1:p.Ala148Thr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.564G>A
  hgvsp: ENSP00000450085.1:p.Ala189Thr
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.2006G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1330G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.340G>A
  hgvsp: ENSP00000448746.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1542G>A
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+127C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.442G>A
  hgvsp: ENSP00000411851.2:p.Ala148Thr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.364G>A
  hgvsp: ENSP00000447063.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+127C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+257G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2718C>T
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-8G>A
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+257G>A
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala148Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/17-6920264-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920264
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920264
    reference: chr 17
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.2009A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000572453
  gene symbol: MIR497HG
  hgvsc: ENST00000572453.1:n.2715T>G
  variant of: http://identifiers.org/hgnc/39523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448746
  ensembl transcript: ENST00000552402
  gene symbol: C17orf49
  hgvsc: ENST00000552402.1:c.343A>C
  hgvsp: ENSP00000448746.1:p.Asn115His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.445A>C
  hgvsp: ENSP00000411851.2:p.Asn149His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447063
  ensembl transcript: ENST00000552775
  gene symbol: C17orf49
  hgvsc: ENST00000552775.1:c.367A>C
  hgvsp: ENSP00000447063.1:p.Asn123His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000468587
  ensembl transcript: ENST00000547747
  gene symbol: C17orf49
  hgvsc: ENST00000547747.1:c.*30A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000547709
  gene symbol: C17orf49
  hgvsc: ENST00000547709.1:n.362+260A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000547863
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547863.1:n.1333A>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000550038
  gene symbol: C17orf49
  hgvsc: ENST00000550038.1:n.251-5A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000447646
  ensembl transcript: ENST00000546760
  gene symbol: C17orf49
  hgvsc: ENST00000546760.1:c.409+260A>C
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161939
  ensembl transcript: ENST00000549775
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000549775.1:n.1545A>C
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000448598
  ensembl transcript: ENST00000546495
  gene symbol: C17orf49
  hgvsc: ENST00000546495.1:c.445A>C
  hgvsp: ENSP00000448598.1:p.Asn149His
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267047
  ensembl transcript: ENST00000572547
  gene symbol: RP11-589P10.7
  hgvsc: ENST00000572547.1:n.357+124T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161939
  ensembl protein: ENSP00000450085
  ensembl transcript: ENST00000547302
  gene symbol: RNASEK-C17orf49
  hgvsc: ENST00000547302.2:c.567A>C
  hgvsp: ENSP00000450085.1:p.Asn190His
  variant of: http://identifiers.org/hgnc/44419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267532
  ensembl transcript: ENST00000443997
  gene symbol: MIR497HG
  hgvsc: ENST00000443997.1:n.573+124T>G
  variant of: http://identifiers.org/hgnc/39523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn149His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-6920265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6920265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 6920265
    reference: chr 17
allele count: 12
allele frequency: 9.907856930545922e-5
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258315
  ensembl transcript: ENST00000549857
  gene symbol: C17orf49
  hgvsc: ENST00000549857.1:n.2010A>G
  variant of: http://identifiers.org/hgnc/28737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258315
  ensembl protein: ENSP00000411851
  ensembl transcript: ENST00000439424
  gene symbol: C17orf49
  hgvsc: ENST00000439424.2:c.446A>G
  hgvsp: ENSP00000411851.2:p.Asn149Ser
  variant of: http://identifiers.org/hgnc/28737
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asn149Ser
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8867
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4890
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.59e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4160
bin: 8.25e1
variant carriers: 0

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

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

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: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
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SIO_000300: 5.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 9.504e0

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.30094e6

QD
type: SiteQuality
SIO_000300: 1.59e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.300389e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 2.487e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 2.300256e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.531e0

FS
type: SiteQuality
SIO_000300: 2.551e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 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

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.277e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 3.392e0

DP
type: SiteQuality
SIO_000300: 2.299632e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 45

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 61

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.447163248170805e-4
allele num: 66696
num of homozygotes: 0

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

South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.300669e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

BaseQRankSum
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SIO_000300: -3.285e0

QD
type: SiteQuality
SIO_000300: 1.334e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 6600
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

FS
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 2.294759e6

MQ
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SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -3.2e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.846e0

DP
type: SiteQuality
SIO_000300: 2.288944e6

VQSLOD
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SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.144e0

GenotypeDepth
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variant carriers: 0

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

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: 10302
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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: 66490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 5.12e0

VQSLOD
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SIO_000300: -2.194e0

ClippingRankSum
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SIO_000300: 1.22e-1

BaseQRankSum
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SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.603e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 2.287669e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
num of homozygotes: 1

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: 10302
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 5.12e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

QD
type: SiteQuality
SIO_000300: 1.603e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 2.287669e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
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: 10298
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0984e1

QD
type: SiteQuality
SIO_000300: 1.409e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

BaseQRankSum
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SIO_000300: -7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

DP
type: SiteQuality
SIO_000300: 2.287562e6

GenotypeDepth
all individuals: 377
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.010778587342687e-5
allele num: 66428
num of homozygotes: 0

Other
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FS
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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SIO_000300: 3.0e-4

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

Other
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

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

Latino
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European (Non-Finnish)
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allele num: 65914
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African
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Other
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East Asian
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South Asian
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FS
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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Latino
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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African
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South Asian
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European (Finnish)
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East Asian
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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QD
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MQ
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.538319539734794e-5
allele num: 65006
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538319539734794e-5
allele num: 65006
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.1e-3

QD
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.076733739462187e-5
allele num: 65004
num of homozygotes: 0

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

FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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SIO_000300: 1.531e1

MQ
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GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64700
num of homozygotes: 0

South Asian
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allele frequency: 6.839945280437756e-5
allele num: 14620
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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num of homozygotes: 0

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

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

GenotypeDepth
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variant carriers: 0

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

South Asian
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Latino
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

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

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

FS
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SIO_000300: 5.71e-1

MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.818671e6

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 4.513857542655954e-5
allele num: 66462
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Finnish)
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allele num: 6612
num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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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 (Non-Finnish)
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allele num: 66484
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Latino
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num of homozygotes: 0

East Asian
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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DP
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QD
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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South Asian
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VQSLOD
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SIO_000300: -1.017e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.862e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -5.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.819744e6

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.510057428064584e-5
allele num: 66518
num of homozygotes: 0

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

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

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

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

QD
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SIO_000300: 1.218e1

InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 5.22e-1

BaseQRankSum
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SIO_000300: -3.725e0

VQSLOD
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.819231e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

ReadPosRankSum
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SIO_000300: 1.14e-1

MQRankSum
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.292e-1

QD
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SIO_000300: 1.092e1

BaseQRankSum
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SIO_000300: -2.461e0

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66534
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: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.459e0

BaseQRankSum
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SIO_000300: -1.251e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: -1.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -2.989e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

DP
type: SiteQuality
SIO_000300: 2.819468e6

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 978
allele frequency: 1.131944444444444e-1
allele num: 8640
num of homozygotes: 46

South Asian
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allele count: 523
allele frequency: 3.170850006062811e-2
allele num: 16494
num of homozygotes: 8

European (Finnish)
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allele count: 938
allele frequency: 1.418203810099788e-1
allele num: 6614
num of homozygotes: 76

European (Non-Finnish)
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allele count: 4617
allele frequency: 6.93555655700766e-2
allele num: 66570
num of homozygotes: 171

Other
type: Population
allele count: 89
allele frequency: 9.801762114537445e-2
allele num: 908
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African
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allele count: 164
allele frequency: 1.584234930448223e-2
allele num: 10352
num of homozygotes: 2

Latino
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allele count: 5066
allele frequency: 4.37856525496975e-1
allele num: 11570
num of homozygotes: 1242

VQSLOD
type: SiteQuality
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 6.37e-1

MQRankSum
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SIO_000300: 1.78e-1

GenotypeDepth
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variant carriers: 0

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

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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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Other
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South Asian
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

Other
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allele count: 0
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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: 8642
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: -7.1e-1

QD
type: SiteQuality
SIO_000300: 1.817e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 2.397838e6

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeDepth
all individuals: 758
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6624
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5080
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1734
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3701
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12131
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23356
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6090
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

DP
type: SiteQuality
SIO_000300: 2.397867e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.086e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeDepth
all individuals: 757
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2631
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1269
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3701
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5080
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13404
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23355
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 6086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.397686e6

FS
type: SiteQuality
SIO_000300: 4.122e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0