5-118824936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824936
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824936
    reference: chr 5
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.747G>A
  hgvsp: ENSP00000420914.1:p.Trp249Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.600G>A
  hgvsp: ENSP00000424940.1:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.618G>A
  hgvsp: ENSP00000424613.1:p.Trp206Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-213G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.672G>A
  hgvsp: ENSP00000256216.6:p.Trp224Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.252G>A
  hgvsp: ENSP00000411960.2:p.Trp84Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.375G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.261G>A
  hgvsp: ENSP00000425993.1:p.Trp87Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.732G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.672G>A
  hgvsp: ENSP00000390208.3:p.Trp224Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.240G>A
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp249Ter
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-118824939-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824939
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824939
    reference: chr 5
allele count: 3
allele frequency: 2.474063566939913e-5
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.735T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.750T>G
  hgvsp: ENST00000504811.1:c.750T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.675T>G
  hgvsp: ENST00000256216.6:c.675T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.378T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.621T>G
  hgvsp: ENST00000515320.1:c.621T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.255T>G
  hgvsp: ENST00000414835.2:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.675T>G
  hgvsp: ENST00000442060.3:c.675T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.264T>G
  hgvsp: ENST00000513628.1:c.264T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.603T>G
  hgvsp: ENST00000510025.1:c.603T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.243T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-210T>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu250Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

5-118824945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824945
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824945
    reference: chr 5
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.681C>T
  hgvsp: ENST00000256216.6:c.681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.609C>T
  hgvsp: ENST00000510025.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.681C>T
  hgvsp: ENST00000442060.3:c.681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.249C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.270C>T
  hgvsp: ENST00000513628.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.261C>T
  hgvsp: ENST00000414835.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.756C>T
  hgvsp: ENST00000504811.1:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.741C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.384C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.627C>T
  hgvsp: ENST00000515320.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-204C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His252His
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

5-118824946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824946
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824946
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.757G>A
  hgvsp: ENSP00000420914.1:p.Glu253Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.628G>A
  hgvsp: ENSP00000424613.1:p.Glu210Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.742G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.262G>A
  hgvsp: ENSP00000411960.2:p.Glu88Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.682G>A
  hgvsp: ENSP00000390208.3:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-203G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.610G>A
  hgvsp: ENSP00000424940.1:p.Glu204Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.682G>A
  hgvsp: ENSP00000256216.6:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.250G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.271G>A
  hgvsp: ENSP00000425993.1:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.385G>A
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu253Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

5-118824948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824948
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824948
    reference: chr 5
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.684G>A
  hgvsp: ENST00000442060.3:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.759G>A
  hgvsp: ENST00000504811.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.744G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.264G>A
  hgvsp: ENST00000414835.2:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-201G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.273G>A
  hgvsp: ENST00000513628.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.387G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.630G>A
  hgvsp: ENST00000515320.1:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.612G>A
  hgvsp: ENST00000510025.1:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.684G>A
  hgvsp: ENST00000256216.6:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.252G>A
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu253Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-118824963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824963
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824963
    reference: chr 5
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.288T>C
  hgvsp: ENST00000513628.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-186T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.402T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.699T>C
  hgvsp: ENST00000442060.3:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.627T>C
  hgvsp: ENST00000510025.1:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.279T>C
  hgvsp: ENST00000414835.2:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.645T>C
  hgvsp: ENST00000515320.1:c.645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.699T>C
  hgvsp: ENST00000256216.6:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.774T>C
  hgvsp: ENST00000504811.1:c.774T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.267T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.759T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn258Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-118824974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824974
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824974
    reference: chr 5
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.656T>C
  hgvsp: ENSP00000424613.1:p.Phe219Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.299T>C
  hgvsp: ENSP00000425993.1:p.Phe100Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.785T>C
  hgvsp: ENSP00000420914.1:p.Phe262Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000505181
  gene symbol: HSD17B4
  hgvsc: ENST00000505181.1:n.413T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.278T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-175T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.638T>C
  hgvsp: ENSP00000424940.1:p.Phe213Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.710T>C
  hgvsp: ENSP00000256216.6:p.Phe237Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.290T>C
  hgvsp: ENSP00000411960.2:p.Phe97Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.710T>C
  hgvsp: ENSP00000390208.3:p.Phe237Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.770T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe262Ser
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: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-118824981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824981
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824981
    reference: chr 5
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+3A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+3A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: c.789+3A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

5-118824982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824982
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824982
    reference: chr 5
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+4T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+4T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: c.789+4T>C
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

5-118824990-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824990
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824990
    reference: chr 5
allele count: 4
allele frequency: 3.305621208865676e-5
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+12T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+12T>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

5-118824992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118824992
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118824992
    reference: chr 5
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+14C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+14C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-118825000-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118825000
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118825000
    reference: chr 5
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+22C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+22C>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-118825005-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118825005
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118825005
    reference: chr 5
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+27A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+27A>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
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: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

5-118825006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118825006
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118825006
    reference: chr 5
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+28T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+28T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

5-118825007-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118825007
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118825005
    reference: chr 5
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+30_789+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+30_642+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+30_303+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+30_714+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+30_714+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+30_-171+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+30_282+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+30_294+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+30_774+31delAG
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+30_660+31delAG
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19344
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: TAG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-118825015-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118825015
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118825015
    reference: chr 5
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+37T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+37T>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

5-118825016-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118825016
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118825016
    reference: chr 5
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.660+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.714+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.789+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-171+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.303+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.714+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.642+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.294+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.774+38C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.282+38C>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

5-118827744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827744
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827744
    reference: chr 5
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-51A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

5-118827770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827770
    reference: chr 5
allele count: 89
allele frequency: 7.338632540651077e-4
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-25A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-25A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-118827770-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827770
    reference: chr 5
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-25A>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-25A>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-118827773-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827773
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827773
    reference: chr 5
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-22G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-22G>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-118827777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827777
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827777
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-18T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-18T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

5-118827777-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827777
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827776
    reference: chr 5
allele count: 9
allele frequency: 7.41986545310645e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-13delC
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-13delC
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

5-118827782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827782
    reference: chr 5
allele count: 66
allele frequency: 5.441144948803773e-4
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-170-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.790-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.715-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.295-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.643-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.661-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.304-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.715-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.283-13C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.775-13C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55884
  bin: 9.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-118827801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827801
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827801
    reference: chr 5
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-164G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.667G>C
  hgvsp: ENSP00000424613.1:p.Ala223Pro
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.289G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.721G>C
  hgvsp: ENSP00000256216.6:p.Ala241Pro
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.310G>C
  hgvsp: ENSP00000425993.1:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.301G>C
  hgvsp: ENSP00000411960.2:p.Ala101Pro
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.781G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.721G>C
  hgvsp: ENSP00000390208.3:p.Ala241Pro
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.796G>C
  hgvsp: ENSP00000420914.1:p.Ala266Pro
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.649G>C
  hgvsp: ENSP00000424940.1:p.Ala217Pro
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala266Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

5-118827806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827806
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827806
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.672A>G
  hgvsp: ENST00000515320.1:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.786A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-159A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.801A>G
  hgvsp: ENST00000504811.1:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.315A>G
  hgvsp: ENST00000513628.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.306A>G
  hgvsp: ENST00000414835.2:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.726A>G
  hgvsp: ENST00000256216.6:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.654A>G
  hgvsp: ENST00000510025.1:c.654A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000512644
  gene symbol: HSD17B4
  hgvsc: ENST00000512644.1:n.294A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.726A>G
  hgvsp: ENST00000442060.3:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly267Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

5-118827819-TGTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827819
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827815
    reference: chr 5
allele count: 4
allele frequency: 3.298207424264912e-5
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+3_-146+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+3_319+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+3_667+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+3_685+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+3_739+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+3_328+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.802_805delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+3_739+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+3_814+6delAAGT
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
hgvs: c.814+3_814+6delAAGT
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TGTAA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/5-118827823-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827823
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827823
    reference: chr 5
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.803A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+4A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+4A>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
hgvs: c.814+4A>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

5-118827828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827828
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827828
    reference: chr 5
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.808C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+9C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+9C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

5-118827842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827842
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827842
    reference: chr 5
allele count: 7274
allele frequency: 6.001848245816693e-2
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.822T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+23T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+23T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 6.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 5.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 6.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 5.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 8.75e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 7.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 8.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 9.25e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 7.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 9.75e1
  variant carriers: 4520
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55957
  bin: 9.75e1
  variant carriers: 6403
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 866
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

5-118827846-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827846
    reference: chr 5
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.826T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+27T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+27T>A
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-118827847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827847
    reference: chr 5
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.827A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+28A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-118827851-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827851
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827851
    reference: chr 5
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+32A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.831A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+32A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55349
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-118827860-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827860
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827860
    reference: chr 5
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.840T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+41T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+41T>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-118827862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827862
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827862
    reference: chr 5
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+43A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.842A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+43A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

5-118827865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827865
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827865
    reference: chr 5
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.845T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+46T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+46T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

5-118827871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118827871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118827871
    reference: chr 5
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.851C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.739+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.328+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.685+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.739+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-146+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.667+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.814+52C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.319+52C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-118829464-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829464
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829464
    reference: chr 5
allele count: 11
allele frequency: 9.222771862161482e-5
allele num: 119270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2444C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-49C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-49C>A
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13370
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-118829468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829468
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829468
    reference: chr 5
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2448C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-45C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-45C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16011
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

5-118829470-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829470
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829470
    reference: chr 5
allele count: 3
allele frequency: 2.512184092850324e-5
allele num: 119418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2450C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-43C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-43C>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

5-118829481-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829481
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829481
    reference: chr 5
allele count: 2
allele frequency: 1.671905303283622e-5
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2461G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-32G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-32G>T
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13384
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-118829485-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829485
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829485
    reference: chr 5
allele count: 2
allele frequency: 1.670257720766314e-5
allele num: 119742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2465A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-28A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-28A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

5-118829486-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829486
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829486
    reference: chr 5
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2466G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-27G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-27G>C
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-118829497-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829497
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829497
    reference: chr 5
allele count: 272
allele frequency: 2.265571640373819e-3
allele num: 120058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-16T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2477T>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-16T>G
  variant of: http://identifiers.org/hgnc/5213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 20316
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 3
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-118829506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829506
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829506
    reference: chr 5
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2486T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-7T>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-7T>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: c.815-7T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-118829508-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829508
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829508
    reference: chr 5
allele count: 4
allele frequency: 3.323363243602526e-5
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2488A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-5A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-5A>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13405
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: c.815-5A>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-118829509-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829509
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829509
    reference: chr 5
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2489C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-4C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-4C>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: c.815-4C>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-118829512-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829512
    reference: chr 5
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740-1G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2492G>C
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
hgvs: c.815-1G>C
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

5-118829513-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829513
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829513
    reference: chr 5
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.815T>A
  hgvsp: ENSP00000420914.1:p.Leu272Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.329T>A
  hgvsp: ENSP00000425993.1:p.Leu110Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.740T>A
  hgvsp: ENSP00000390208.3:p.Leu247Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.320T>A
  hgvsp: ENSP00000411960.2:p.Leu107Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-145T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.1T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2493T>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.668T>A
  hgvsp: ENSP00000424940.1:p.Leu223Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.740T>A
  hgvsp: ENSP00000256216.6:p.Leu247Ter
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.686T>A
  hgvsp: ENSP00000424613.1:p.Leu229Ter
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu272Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

5-118829516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829516
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829516
    reference: chr 5
allele count: 2
allele frequency: 1.65873239670244e-5
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-142G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.332G>A
  hgvsp: ENSP00000425993.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.743G>A
  hgvsp: ENSP00000390208.3:p.Arg248His
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.323G>A
  hgvsp: ENSP00000411960.2:p.Arg108His
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.818G>A
  hgvsp: ENSP00000420914.1:p.Arg273His
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.689G>A
  hgvsp: ENSP00000424613.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2496G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.4G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.671G>A
  hgvsp: ENSP00000424940.1:p.Arg224His
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.743G>A
  hgvsp: ENSP00000256216.6:p.Arg248His
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24151
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg273His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

5-118829524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829524
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829524
    reference: chr 5
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2504C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.679C>T
  hgvsp: ENSP00000424940.1:p.Arg227Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-134C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.751C>T
  hgvsp: ENSP00000390208.3:p.Arg251Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.826C>T
  hgvsp: ENSP00000420914.1:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.331C>T
  hgvsp: ENSP00000411960.2:p.Arg111Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.697C>T
  hgvsp: ENSP00000424613.1:p.Arg233Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.340C>T
  hgvsp: ENSP00000425993.1:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.751C>T
  hgvsp: ENSP00000256216.6:p.Arg251Trp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.12C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24141
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg276Trp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

5-118829525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829525
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829525
    reference: chr 5
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.827G>A
  hgvsp: ENSP00000420914.1:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.13G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.332G>A
  hgvsp: ENSP00000411960.2:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.341G>A
  hgvsp: ENSP00000425993.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.698G>A
  hgvsp: ENSP00000424613.1:p.Arg233Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2505G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.752G>A
  hgvsp: ENSP00000256216.6:p.Arg251Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.680G>A
  hgvsp: ENSP00000424940.1:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.752G>A
  hgvsp: ENSP00000390208.3:p.Arg251Gln
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-133G>A
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg276Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-118829528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829528
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829528
    reference: chr 5
allele count: 5
allele frequency: 4.141472707694856e-5
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.755C>T
  hgvsp: ENSP00000256216.6:p.Thr252Ile
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.335C>T
  hgvsp: ENSP00000411960.2:p.Thr112Ile
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.16C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-130C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.755C>T
  hgvsp: ENSP00000390208.3:p.Thr252Ile
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.701C>T
  hgvsp: ENSP00000424613.1:p.Thr234Ile
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2508C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.344C>T
  hgvsp: ENSP00000425993.1:p.Thr115Ile
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.683C>T
  hgvsp: ENSP00000424940.1:p.Thr228Ile
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.830C>T
  hgvsp: ENSP00000420914.1:p.Thr277Ile
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr277Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-118829539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829539
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829539
    reference: chr 5
allele count: 3
allele frequency: 2.483608185972581e-5
allele num: 120792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.346A>G
  hgvsp: ENSP00000411960.2:p.Ile116Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.841A>G
  hgvsp: ENSP00000420914.1:p.Ile281Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.766A>G
  hgvsp: ENSP00000256216.6:p.Ile256Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.712A>G
  hgvsp: ENSP00000424613.1:p.Ile238Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.27A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.766A>G
  hgvsp: ENSP00000390208.3:p.Ile256Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-119A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2519A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.355A>G
  hgvsp: ENSP00000425993.1:p.Ile119Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.694A>G
  hgvsp: ENSP00000424940.1:p.Ile232Val
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile281Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-118829547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829547
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829547
    reference: chr 5
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.702A>G
  hgvsp: ENST00000510025.1:c.702A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.849A>G
  hgvsp: ENST00000504811.1:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.720A>G
  hgvsp: ENST00000515320.1:c.720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-111A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.363A>G
  hgvsp: ENST00000513628.1:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2527A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.354A>G
  hgvsp: ENST00000414835.2:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.774A>G
  hgvsp: ENST00000256216.6:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.35A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.774A>G
  hgvsp: ENST00000442060.3:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg283Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-118829555-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829555
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829555
    reference: chr 5
allele count: 5
allele frequency: 4.135580883690923e-5
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2535A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.728A>C
  hgvsp: ENSP00000424613.1:p.Asn243Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.362A>C
  hgvsp: ENSP00000411960.2:p.Asn121Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.710A>C
  hgvsp: ENSP00000424940.1:p.Asn237Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.857A>C
  hgvsp: ENSP00000420914.1:p.Asn286Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.371A>C
  hgvsp: ENSP00000425993.1:p.Asn124Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.43A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.782A>C
  hgvsp: ENSP00000256216.6:p.Asn261Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-103A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.782A>C
  hgvsp: ENSP00000390208.3:p.Asn261Thr
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn286Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

5-118829563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829563
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829563
    reference: chr 5
allele count: 12
allele frequency: 9.922767790695752e-5
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-95A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.718A>G
  hgvsp: ENSP00000424940.1:p.Met240Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.379A>G
  hgvsp: ENSP00000425993.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.865A>G
  hgvsp: ENSP00000420914.1:p.Met289Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.790A>G
  hgvsp: ENSP00000256216.6:p.Met264Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.370A>G
  hgvsp: ENSP00000411960.2:p.Met124Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.736A>G
  hgvsp: ENSP00000424613.1:p.Met246Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.790A>G
  hgvsp: ENSP00000390208.3:p.Met264Val
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.51A>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2543A>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met289Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/5-118829569-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829569
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829569
    reference: chr 5
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.871C>A
  hgvsp: ENSP00000420914.1:p.Pro291Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.57C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.376C>A
  hgvsp: ENSP00000411960.2:p.Pro126Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.796C>A
  hgvsp: ENSP00000256216.6:p.Pro266Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.796C>A
  hgvsp: ENSP00000390208.3:p.Pro266Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.385C>A
  hgvsp: ENSP00000425993.1:p.Pro129Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.724C>A
  hgvsp: ENSP00000424940.1:p.Pro242Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-89C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2549C>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.742C>A
  hgvsp: ENSP00000424613.1:p.Pro248Thr
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro291Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-118829569-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829569
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829569
    reference: chr 5
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.385C>G
  hgvsp: ENSP00000425993.1:p.Pro129Ala
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.796C>G
  hgvsp: ENSP00000390208.3:p.Pro266Ala
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.724C>G
  hgvsp: ENSP00000424940.1:p.Pro242Ala
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.57C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-89C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.796C>G
  hgvsp: ENSP00000256216.6:p.Pro266Ala
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.376C>G
  hgvsp: ENSP00000411960.2:p.Pro126Ala
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.871C>G
  hgvsp: ENSP00000420914.1:p.Pro291Ala
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2549C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.742C>G
  hgvsp: ENSP00000424613.1:p.Pro248Ala
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13422
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro291Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

5-118829569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829569
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829569
    reference: chr 5
allele count: 4
allele frequency: 3.307479865716317e-5
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2549C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.871C>T
  hgvsp: ENSP00000420914.1:p.Pro291Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.724C>T
  hgvsp: ENSP00000424940.1:p.Pro242Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.376C>T
  hgvsp: ENSP00000411960.2:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.796C>T
  hgvsp: ENSP00000256216.6:p.Pro266Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.385C>T
  hgvsp: ENSP00000425993.1:p.Pro129Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.742C>T
  hgvsp: ENSP00000424613.1:p.Pro248Ser
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.57C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-89C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.796C>T
  hgvsp: ENSP00000390208.3:p.Pro266Ser
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro291Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-118829570-CTGAGGCAGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829561
    reference: chr 5
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-87_-79delTGAGGCAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.798_806delTGAGGCAGT
  hgvsp: ENSP00000390208.3:p.Glu267_Val269del
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.873_881delTGAGGCAGT
  hgvsp: ENSP00000420914.1:p.Glu292_Val294del
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.378_386delTGAGGCAGT
  hgvsp: ENSP00000411960.2:p.Glu127_Val129del
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.387_395delTGAGGCAGT
  hgvsp: ENSP00000425993.1:p.Glu130_Val132del
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.726_734delTGAGGCAGT
  hgvsp: ENSP00000424940.1:p.Glu243_Val245del
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.798_806delTGAGGCAGT
  hgvsp: ENSP00000256216.6:p.Glu267_Val269del
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.59_67delTGAGGCAGT
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.744_752delTGAGGCAGT
  hgvsp: ENSP00000424613.1:p.Glu249_Val251del
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24252
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu292_Val294del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: CTGAGGCAGT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

5-118829584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829584
    reference: chr 5
allele count: 14
allele frequency: 1.157407407407407e-4
allele num: 120960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.811G>A
  hgvsp: ENSP00000256216.6:p.Ala271Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.757G>A
  hgvsp: ENSP00000424613.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.886G>A
  hgvsp: ENSP00000420914.1:p.Ala296Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-74G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.72G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.391G>A
  hgvsp: ENSP00000411960.2:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.400G>A
  hgvsp: ENSP00000425993.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.811G>A
  hgvsp: ENSP00000390208.3:p.Ala271Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2564G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.739G>A
  hgvsp: ENSP00000424940.1:p.Ala247Thr
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13426
  bin: 9.75e1
  variant carriers: 14
hgvs: p.Ala296Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

5-118829585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829585
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829585
    reference: chr 5
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.392C>G
  hgvsp: ENSP00000411960.2:p.Ala131Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.401C>G
  hgvsp: ENSP00000425993.1:p.Ala134Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.758C>G
  hgvsp: ENSP00000424613.1:p.Ala253Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.887C>G
  hgvsp: ENSP00000420914.1:p.Ala296Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.812C>G
  hgvsp: ENSP00000390208.3:p.Ala271Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.740C>G
  hgvsp: ENSP00000424940.1:p.Ala247Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.812C>G
  hgvsp: ENSP00000256216.6:p.Ala271Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-73C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2565C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.73C>G
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala296Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/5-118829588-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829588
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829588
    reference: chr 5
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-70A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.404A>C
  hgvsp: ENSP00000425993.1:p.Asn135Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.815A>C
  hgvsp: ENSP00000390208.3:p.Asn272Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2568A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.815A>C
  hgvsp: ENSP00000256216.6:p.Asn272Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.395A>C
  hgvsp: ENSP00000411960.2:p.Asn132Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.761A>C
  hgvsp: ENSP00000424613.1:p.Asn254Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.890A>C
  hgvsp: ENSP00000420914.1:p.Asn297Thr
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.76A>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.743A>C
  hgvsp: ENSP00000424940.1:p.Asn248Thr
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn297Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

5-118829592-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829592
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829592
    reference: chr 5
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.408G>T
  hgvsp: ENSP00000425993.1:p.Trp136Cys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.765G>T
  hgvsp: ENSP00000424613.1:p.Trp255Cys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2572G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-66G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.894G>T
  hgvsp: ENSP00000420914.1:p.Trp298Cys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.747G>T
  hgvsp: ENSP00000424940.1:p.Trp249Cys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.399G>T
  hgvsp: ENSP00000411960.2:p.Trp133Cys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.819G>T
  hgvsp: ENSP00000390208.3:p.Trp273Cys
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.80G>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.819G>T
  hgvsp: ENSP00000256216.6:p.Trp273Cys
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp298Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-118829595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829595
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829595
    reference: chr 5
allele count: 9
allele frequency: 7.438754256620491e-5
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.402G>A
  hgvsp: ENST00000414835.2:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.897G>A
  hgvsp: ENST00000504811.1:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2575G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.750G>A
  hgvsp: ENST00000510025.1:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.822G>A
  hgvsp: ENST00000442060.3:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.411G>A
  hgvsp: ENST00000513628.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.822G>A
  hgvsp: ENST00000256216.6:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.768G>A
  hgvsp: ENST00000515320.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.83G>A
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys299Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

5-118829601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829601
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829601
    reference: chr 5
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.903C>T
  hgvsp: ENST00000504811.1:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.774C>T
  hgvsp: ENST00000515320.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.828C>T
  hgvsp: ENST00000256216.6:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2581C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.408C>T
  hgvsp: ENST00000414835.2:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.828C>T
  hgvsp: ENST00000442060.3:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.756C>T
  hgvsp: ENST00000510025.1:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.417C>T
  hgvsp: ENST00000513628.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.89C>T
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-57C>T
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile301Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

5-118829613-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829613
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829613
    reference: chr 5
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-45G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.429G>C
  hgvsp: ENSP00000425993.1:p.Glu143Asp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.786G>C
  hgvsp: ENSP00000424613.1:p.Glu262Asp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2593G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.420G>C
  hgvsp: ENSP00000411960.2:p.Glu140Asp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.840G>C
  hgvsp: ENSP00000256216.6:p.Glu280Asp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.840G>C
  hgvsp: ENSP00000390208.3:p.Glu280Asp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.101G>C
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.915G>C
  hgvsp: ENSP00000420914.1:p.Glu305Asp
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.768G>C
  hgvsp: ENSP00000424940.1:p.Glu256Asp
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu305Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-118829618-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118829618
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 118829618
    reference: chr 5
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000256216
  ensembl transcript: ENST00000256216
  gene symbol: HSD17B4
  hgvsc: ENST00000256216.6:c.845C>G
  hgvsp: ENSP00000256216.6:p.Ala282Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000390208
  ensembl transcript: ENST00000442060
  gene symbol: HSD17B4
  hgvsc: ENST00000442060.3:c.845C>G
  hgvsp: ENSP00000390208.3:p.Ala282Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000420914
  ensembl transcript: ENST00000504811
  gene symbol: HSD17B4
  hgvsc: ENST00000504811.1:c.920C>G
  hgvsp: ENSP00000420914.1:p.Ala307Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000426272
  ensembl transcript: ENST00000509514
  gene symbol: HSD17B4
  hgvsc: ENST00000509514.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424613
  ensembl transcript: ENST00000515320
  gene symbol: HSD17B4
  hgvsc: ENST00000515320.1:c.791C>G
  hgvsp: ENSP00000424613.1:p.Ala264Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000411960
  ensembl transcript: ENST00000414835
  gene symbol: HSD17B4
  hgvsc: ENST00000414835.2:c.425C>G
  hgvsp: ENSP00000411960.2:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000520216
  gene symbol: HSD17B4
  hgvsc: ENST00000520216.1:n.106C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000425993
  ensembl transcript: ENST00000513628
  gene symbol: HSD17B4
  hgvsc: ENST00000513628.1:c.434C>G
  hgvsp: ENSP00000425993.1:p.Ala145Gly
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133835
  ensembl transcript: ENST00000515235
  gene symbol: HSD17B4
  hgvsc: ENST00000515235.2:n.2598C>G
  variant of: http://identifiers.org/hgnc/5213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133835
  ensembl protein: ENSP00000424940
  ensembl transcript: ENST00000510025
  gene symbol: HSD17B4
  hgvsc: ENST00000510025.1:c.773C>G
  hgvsp: ENSP00000424940.1:p.Ala258Gly
  variant of: http://identifiers.org/hgnc/5213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala307Gly
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 1437
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17034
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7202
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20728
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.177e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.17995e6

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

GenotypeDepth
all individuals: 1755
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 4494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20728
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17036
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498830304120928e-5
allele num: 66684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 2.180081e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 2.179859e6

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 9.539e0

GenotypeDepth
all individuals: 445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17036
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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VQSLOD
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MQ
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SIO_000300: 6.0e1

FS
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.179882e6

BaseQRankSum
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SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

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: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

East Asian
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.87e-1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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FS
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SIO_000300: 3.639e0

InbreedingCoeff
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DP
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MQ
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -2.208e0

ReadPosRankSum
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SIO_000300: 2.81e-1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.912e1

QD
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ClippingRankSum
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SIO_000300: 1.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16506
num of homozygotes: 0

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

European (Finnish)
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Other
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Latino
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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European (Non-Finnish)
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African
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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QD
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.173509e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -6.452e-1

FS
type: SiteQuality
SIO_000300: 2.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.642e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
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: 6562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.506e0

QD
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SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.172e0

VQSLOD
type: SiteQuality
SIO_000300: -6.762e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.170603e6

MQ
type: SiteQuality
SIO_000300: 5.604e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.418e-1

DP
type: SiteQuality
SIO_000300: 2.169822e6

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.759e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.925e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.061e0

DP
type: SiteQuality
SIO_000300: 2.16869e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.604e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2597
bin: 9.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

FS
type: SiteQuality
SIO_000300: 2.073e0

DP
type: SiteQuality
SIO_000300: 2.154752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
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African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.572e0

MQRankSum
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SIO_000300: 1.09e0

QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

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

South Asian
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allele count: 89
allele frequency: 5.390672319806178e-3
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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Latino
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num of homozygotes: 0

InbreedingCoeff
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FS
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.979e1

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

South Asian
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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 count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11510
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.49e-1

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16508
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.025e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
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SIO_000300: 4.952077e6

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.072e0

FS
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SIO_000300: 1.147e0

VQSLOD
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MQRankSum
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SIO_000300: 1.29e0

QD
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SIO_000300: 1.169e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.147e0

ClippingRankSum
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SIO_000300: -1.072e0

MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.37e-1

MQ
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele count: 59
allele frequency: 5.669805881222372e-3
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.339524388127062e-4
allele num: 11522
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
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: -7.98e-1

ClippingRankSum
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SIO_000300: -2.09e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8650
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European (Finnish)
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Other
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South Asian
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FS
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

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

Latino
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num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Latino
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allele frequency: 3.474635163307853e-4
allele num: 11512
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Other
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.950145e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 6.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.365e0

GenotypeQuality
all individuals: 527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 4.950035e6

FS
type: SiteQuality
SIO_000300: 5.801e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.14e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 2

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: 8
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GenotypeQuality
all individuals: 701
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 120
allele frequency: 1.044750130593766e-2
allele num: 11486
num of homozygotes: 2

African
type: Population
allele count: 803
allele frequency: 7.719669294366469e-2
allele num: 10402
num of homozygotes: 30

East Asian
type: Population
allele count: 3495
allele frequency: 4.046075480435286e-1
allele num: 8638
num of homozygotes: 719

Other
type: Population
allele count: 47
allele frequency: 5.187637969094923e-2
allele num: 906
num of homozygotes: 3

South Asian
type: Population
allele count: 1663
allele frequency: 1.007390356190938e-1
allele num: 16508
num of homozygotes: 102

European (Non-Finnish)
type: Population
allele count: 932
allele frequency: 1.398265670477391e-2
allele num: 66654
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 214
allele frequency: 3.241441987276583e-2
allele num: 6602
num of homozygotes: 3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.842e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 5.094661e6

QD
type: SiteQuality
SIO_000300: 1.791e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 873
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 6.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.786236e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

FS
type: SiteQuality
SIO_000300: 2.259e0

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.205e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
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GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 93
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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: 789
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GenotypeQuality
all individuals: 55350
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 309
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GenotypeQuality
all individuals: 874
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GenotypeQuality
all individuals: 565
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 6.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 1.555e1

DP
type: SiteQuality
SIO_000300: 4.786148e6

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
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variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 873
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GenotypeQuality
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GenotypeQuality
all individuals: 38
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 1269
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GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.785348e6

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.663e1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1267
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GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 6590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.628e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 4.783502e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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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: 81
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GenotypeQuality
all individuals: 55347
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variant carriers: 2

GenotypeQuality
all individuals: 629
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.783027e6

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.614e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
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GenotypeQuality
all individuals: 91
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 55345
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GenotypeQuality
all individuals: 18
bin: 2.5e0
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GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 1268
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GenotypeQuality
all individuals: 513
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GenotypeQuality
all individuals: 561
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GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.782269e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.65e-1

FS
type: SiteQuality
SIO_000300: 1.3451e1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55341
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 4.781269e6

QD
type: SiteQuality
SIO_000300: 1.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.293e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13138
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.781255557531566e-4
allele num: 11246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

DP
type: SiteQuality
SIO_000300: 1.983203e6

MQRankSum
type: SiteQuality
SIO_000300: -1.924e0

FS
type: SiteQuality
SIO_000300: 2.061e0

MQ
type: SiteQuality
SIO_000300: 5.489e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 2524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 4310
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GenotypeQuality
all individuals: 3134
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.994276e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeQuality
all individuals: 17177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1262
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variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043121024923161e-5
allele num: 65722
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.869966294128082e-5
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.000262e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.586e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 4.386e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 7020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 924
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GenotypeQuality
all individuals: 20993
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.222643354933366e-4
allele num: 16358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.691e0

DP
type: SiteQuality
SIO_000300: 2.033307e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 1.6507e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 8.92e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 788
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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035454103933948e-5
allele num: 65888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.042765e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.229e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

FS
type: SiteQuality
SIO_000300: 9.67e0

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.559e0

GenotypeQuality
all individuals: 4503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1866
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.339e0

FS
type: SiteQuality
SIO_000300: 1.0017e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.04527e6

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1383
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13590
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variant carriers: 268

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 91
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513546238837597e-5
allele num: 66070
num of homozygotes: 0

African
type: Population
allele count: 257
allele frequency: 2.502434274586173e-2
allele num: 10270
num of homozygotes: 3

Latino
type: Population
allele count: 14
allele frequency: 1.237623762376238e-3
allele num: 11312
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 2.066995e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 7369
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GenotypeQuality
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GenotypeQuality
all individuals: 23738
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3370
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GenotypeQuality
all individuals: 3354
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.073972e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 2.452e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.642e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeQuality
all individuals: 479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1883
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variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.432794063982484e-4
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

FS
type: SiteQuality
SIO_000300: 2.147e0

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

DP
type: SiteQuality
SIO_000300: 2.076172e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1401
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.261e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.076956e6

GenotypeQuality
all individuals: 1886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 3369
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 2.079652e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.433e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3373
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 7433
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: -5.95e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

FS
type: SiteQuality
SIO_000300: 1.1144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.080052e6

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013863773357444e-5
allele num: 66360
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.082486e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 8.239000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.711e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

BaseQRankSum
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SIO_000300: -1.212e0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

African
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: 898
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.532e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.74e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4696
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.512469265893923e-4
allele num: 11388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 1.793e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.87e0

DP
type: SiteQuality
SIO_000300: 2.086783e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 40
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GenotypeQuality
all individuals: 4689
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.049710277523635e-4
allele num: 6558
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
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DP
type: SiteQuality
SIO_000300: 2.088688e6

MQ
type: SiteQuality
SIO_000300: 5.888e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

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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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: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.76731544800982e-5
allele num: 11406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 2.371e1

ReadPosRankSum
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SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.089822e6

BaseQRankSum
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SIO_000300: 3.67e0

VQSLOD
type: SiteQuality
SIO_000300: -2.559e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.357e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.506926179203928e-4
allele num: 11406
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.692e0

DP
type: SiteQuality
SIO_000300: 2.09068e6

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7595
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052188552188552e-4
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e0

DP
type: SiteQuality
SIO_000300: 2.092018e6

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Other
type: Population
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allele num: 900
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East Asian
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allele count: 0
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
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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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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ClippingRankSum
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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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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: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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MQ
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SIO_000300: 5.234e1

DP
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ReadPosRankSum
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SIO_000300: -7.49e-1

ClippingRankSum
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FS
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BaseQRankSum
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SIO_000300: 2.64e-1

VQSLOD
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SIO_000300: -1.521e-1

QD
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SIO_000300: 3.99e0

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

Latino
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allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
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 frequency: 7.883565797453002e-4
allele num: 16490
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8634
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 1.8e-3

VQSLOD
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BaseQRankSum
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SIO_000300: -3.409e0

MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
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SIO_000300: 2.094252e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8634
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Other
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allele frequency: 0.0e0
allele num: 902
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South Asian
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allele frequency: 0.0e0
allele num: 16488
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 6.07e-1

ClippingRankSum
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MQ
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SIO_000300: 5.963e1

MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.093728e6

InbreedingCoeff
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SIO_000300: 2.3e-3

VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.027e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.701e0

DP
type: SiteQuality
SIO_000300: 2.093774e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.796e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South 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
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66554
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.282e0

InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 8.650519031141869e-4
allele num: 10404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66558
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East Asian
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South 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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QD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele count: 1
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allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66566
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African
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Other
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.615384615384615e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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BaseQRankSum
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MQ
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QD
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FS
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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