17-78389614-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389614
    reference: chr 17
allele count: 1
allele frequency: 1.934310805060157e-5
allele num: 51698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-29A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.221A>T
  hgvsp: ENSP00000429442.1:p.Glu74Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-227A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.229A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+204A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.221A>T
  hgvsp: ENSP00000429190.1:p.Glu74Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.346A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-164A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-187A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.221A>T
  hgvsp: ENSP00000429183.1:p.Glu74Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-29A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.221A>T
  hgvsp: ENSP00000431036.1:p.Glu74Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-227A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.251A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-220+204A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+564A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-29A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.162A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-29A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.221A>T
  hgvsp: ENSP00000317810.5:p.Glu74Val
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu74Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-78389622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389622
    reference: chr 17
allele count: 3
allele frequency: 6.1020258725897e-5
allele num: 49164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+212G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-220+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.259G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+212G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+1G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-22+1G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.228+1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-78389626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389626
    reference: chr 17
allele count: 2
allele frequency: 4.217451815613006e-5
allele num: 47422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.228+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+216C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+5C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-220+216C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.263C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-22+5C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.228+5C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

17-78389628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389628
    reference: chr 17
allele count: 1
allele frequency: 2.132741852926122e-5
allele num: 46888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+218T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+218T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-22+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-22+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.265T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-220+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+578T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+7T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+7T>C
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.228+7T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-78389633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389633
    reference: chr 17
allele count: 3
allele frequency: 6.709308046696784e-5
allele num: 44714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+223G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.228+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-22+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.270G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+583G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+12G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+223G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+12G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-78389639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389639
    reference: chr 17
allele count: 1
allele frequency: 2.407550077041603e-5
allele num: 41536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+589C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.276C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-22+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+229C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-220+229C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+18C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+229C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+18C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-78389651-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389651
    reference: chr 17
allele count: 1
allele frequency: 2.960331557134399e-5
allele num: 33780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-22+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-220+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+241G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+241G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+601G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-22+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.288G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+30G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+30G>C
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-78389660-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389660
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389660
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 28948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-220+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+610G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-22+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-22+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.297G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.228+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-22+39G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-220+250G>T
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-78389670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78389670
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78389670
    reference: chr 17
allele count: 3
allele frequency: 1.094810597766586e-4
allele num: 27402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-22+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+260G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.353+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521847
  gene symbol: ENDOV
  hgvsc: ENST00000521847.1:n.353+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-220+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520537
  gene symbol: ENDOV
  hgvsc: ENST00000520537.1:n.307G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.228+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000523165
  gene symbol: ENDOV
  hgvsc: ENST00000523165.1:n.169+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.237+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-22+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-157+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.228+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-220+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-220+260G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-345+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.228+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.228+49G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+620G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+260G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-78393172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393172
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2456G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3551G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1427G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2456G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-214G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.56+4122G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2456G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2834G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2834G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3551G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-214G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2834G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3551G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2834G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2834G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1427G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3762G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2456G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2768G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2456G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1427G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-78393204-GGTGTGTGCTGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393193
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 128
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: GGTGTGTGCTGC
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-78393223-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393223
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393223
    reference: chr 17
allele count: 2
allele frequency: 1.149425287356322e-2
allele num: 174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2405G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-163G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2783G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2783G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2783G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3813G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2405G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2405G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2405G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2405G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3602G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3602G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-4097G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2783G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1478G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-163G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2783G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3602G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264961
  ensembl transcript: ENST00000584535
  gene symbol: MIR4730
  hgvsc: ENST00000584535.1:n.6G>T
  variant of: http://identifiers.org/hgnc/41880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2717G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3813G>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-78393231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393231
    reference: chr 17
allele count: 1
allele frequency: 4.385964912280702e-3
allele num: 228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2775C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2397C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1486C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2775C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2775C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3821C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2397C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2397C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2775C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2775C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3821C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-155C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1486C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2709C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2775C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000264961
  ensembl transcript: ENST00000584535
  gene symbol: MIR4730
  hgvsc: ENST00000584535.1:n.14C>T
  variant of: http://identifiers.org/hgnc/41880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-4089C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2397C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1486C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2397C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3610C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: mature miRNA
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-78393260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393260
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2746G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2746G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1515G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2746G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1515G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2746G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-126G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2368G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2368G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3850G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2680G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2746G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3639G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-4060G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1515G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264961
  ensembl transcript: ENST00000584535
  gene symbol: MIR4730
  hgvsc: ENST00000584535.1:n.43G>A
  variant of: http://identifiers.org/hgnc/41880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2368G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2368G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2746G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3639G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3639G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

17-78393261-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393261
    reference: chr 17
allele count: 1
allele frequency: 9.92063492063492e-4
allele num: 1008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2745A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2367A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1516A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2745A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2679A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3851A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-4059A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2745A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3851A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3640A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264961
  ensembl transcript: ENST00000584535
  gene symbol: MIR4730
  hgvsc: ENST00000584535.1:n.44A>T
  variant of: http://identifiers.org/hgnc/41880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2367A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-125A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1516A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2745A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3640A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2745A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2367A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1516A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-125A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2367A>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-78393291-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393291
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393291
    reference: chr 17
allele count: 4
allele frequency: 1.033057851239669e-3
allele num: 3872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2337G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2337G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1546G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264961
  ensembl transcript: ENST00000584535
  gene symbol: MIR4730
  hgvsc: ENST00000584535.1:n.74G>T
  variant of: http://identifiers.org/hgnc/41880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-95G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3881G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1546G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-95G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3670G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2715G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2715G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2715G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1546G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3670G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2337G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2715G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2337G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2715G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-4029G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3881G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2337G>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-78393313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393313
    reference: chr 17
allele count: 4
allele frequency: 5.184033177812338e-4
allele num: 7716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3903C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2315C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-4007C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2693C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1568C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2315C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3692C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3692C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2693C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2693C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2315C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2693C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2627C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2693C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3692C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2315C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1568C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1568C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2693C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-73C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-73C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

17-78393342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393342
    reference: chr 17
allele count: 2
allele frequency: 1.669727834362999e-4
allele num: 11978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2664C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2664C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2664C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3932C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3932C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2286C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2286C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2286C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2598C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1597C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2286C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1597C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1597C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-44C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2664C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3721C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3978C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3721C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2286C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2664C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-44C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

17-78393343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393343
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393343
    reference: chr 17
allele count: 1
allele frequency: 8.282259400364419e-5
allele num: 12074
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2285G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1598G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3722G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1598G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2663G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2663G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2663G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1598G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-43G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2285G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3977G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2663G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2285G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-43G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3722G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2663G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2663G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3933G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2597G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2285G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2285G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-78393360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393360
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393360
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 12514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-180+3950A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-156-26A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.229-26A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1615A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1615A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2646A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3739A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-180+3950A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3739A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3960A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2268A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2646A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2646A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1615A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2646A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2646A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2268A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2580A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2646A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3739A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2268A>G
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78393396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393396
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393396
    reference: chr 17
allele count: 6
allele frequency: 4.764930114358323e-4
allele num: 12592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3924A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2610A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2232A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.239A>G
  hgvsp: ENSP00000427921.1:p.Gln80Arg
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-146A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1651A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3924A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2232A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2232A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3775A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2232A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1651A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2610A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2610A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1651A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2232A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3775A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2544A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3775A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2610A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2610A>G
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln80Arg
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-78393398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393398
    reference: chr 17
allele count: 2
allele frequency: 1.589067217543302e-4
allele num: 12586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2230G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2542G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3777G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2230G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-144G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1653G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1653G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2608G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2608G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1653G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3777G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3922G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2608G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3777G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2608G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.241G>A
  hgvsp: ENSP00000427921.1:p.Val81Ile
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2230G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2230G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2608G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2230G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3922G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val81Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-78393412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393412
    reference: chr 17
allele count: 6
allele frequency: 4.775549188156638e-4
allele num: 12564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2594C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3791C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.255C>T
  hgvsp: ENST00000523999.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2216C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2594C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1667C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3908C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2594C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1667C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2528C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2594C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-130C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2594C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2216C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3908C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2594C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3791C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3791C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2216C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3908C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1667C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn85Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-78393415-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393415
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393415
    reference: chr 17
allele count: 1
allele frequency: 7.947862025115244e-5
allele num: 12582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3794A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-127A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2591A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2591A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3905A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2591A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2591A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3905A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2213A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3794A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2591A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1670A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3905A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2591A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.258A>T
  hgvsp: ENST00000523999.1:c.258A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2525A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2213A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2213A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1670A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3794A>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2213A>T
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly86Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-78393458-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393458
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393459
    reference: chr 17
allele count: 6
allele frequency: 4.845743821676627e-4
allele num: 12382
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2547dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3838dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2169dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2169dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2481dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2169dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2547dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3861dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2547dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.302dupA
  hgvsp: ENSP00000427921.1:p.Leu102AlafsTer49
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3838dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2169dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3838dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1714dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2547dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3861dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2547dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1714dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3861dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2547dupA
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-83dupA
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu102AlafsTer49
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78393461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393461
    reference: chr 17
allele count: 22
allele frequency: 1.777059773828756e-3
allele num: 12380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2167C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2545C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2545C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1716C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2545C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2479C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.304C>A
  hgvsp: ENSP00000427921.1:p.Leu102Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1716C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3859C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3859C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3859C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.236+3840C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2167C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-180+3840C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2545C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2167C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-81C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2545C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2545C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.228+3840C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2167C>A
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu102Met
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-78393475-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393475
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393474
    reference: chr 17
allele count: 1
allele frequency: 8.089305937550558e-5
allele num: 12362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-2529delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2529delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2463delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2529delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2151delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2529delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-3843delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.*2delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2151delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2151delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-65delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2529delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3843delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2529delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1732delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-3843delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-3843delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3843delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2151delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3843delC
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1732delC
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: AC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-78393479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393479
    reference: chr 17
allele count: 1
allele frequency: 8.093234056328909e-5
allele num: 12356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1734C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2149C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1734C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2149C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3841C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2527C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2527C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3841C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-3841C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2527C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-63C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2149C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2461C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1734C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-3841C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2527C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3841C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2527C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-3841C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2149C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-78393504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78393504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78393504
    reference: chr 17
allele count: 5
allele frequency: 4.065040650406504e-4
allele num: 12300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-2436G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-2124G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-2502G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-3816G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-2124G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-2124G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000427921
  ensembl transcript: ENST00000523999
  gene symbol: ENDOV
  hgvsc: ENST00000523999.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-2502G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-3816G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.325+1759G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-2502G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-2502G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-3816G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-3816G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-2124G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.488+1759G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-2502G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-180+1759G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-3816G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-2124G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-78395583-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395583
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395583
    reference: chr 17
allele count: 1
allele frequency: 2.47255464345762e-5
allele num: 40444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-45T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-423T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-423T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-423T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-423T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-45T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-357T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-45T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-45T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-45T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-423T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-45T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1737T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-423T>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-423T>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-78395587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395587
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395587
    reference: chr 17
allele count: 4
allele frequency: 9.837194432147952e-5
allele num: 40662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-419C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-41C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-419C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-419C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-419C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-41C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-419C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-41C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-41C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-353C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-419C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-41C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1733C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-41C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-78395588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395588
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395588
    reference: chr 17
allele count: 1
allele frequency: 2.451461070798196e-5
allele num: 40792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-418G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-352G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-40G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-418G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-418G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-418G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-40G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-40G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-418G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-418G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-40G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1732G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-40G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-418G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

17-78395592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395592
    reference: chr 17
allele count: 3
allele frequency: 7.237286500048249e-5
allele num: 41452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-36G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-36G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-36G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1728G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-36G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-414G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-36G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-348G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-36G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-78395595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395595
    reference: chr 17
allele count: 1
allele frequency: 2.395898222243519e-5
allele num: 41738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-33G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1725G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1725G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-33G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-33G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-33G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-33G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1725G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1725G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1725G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-33G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-345G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1725G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-411G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1725G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-78395596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395596
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 41806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-32T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-344T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-32T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-32T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-32T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1724T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-410T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-32T>C
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-78395598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395598
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395598
    reference: chr 17
allele count: 2
allele frequency: 4.749014579474759e-5
allele num: 42114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-30C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-408C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-408C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-408C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-30C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-30C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-342C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-30C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-30C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1722C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-408C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-408C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-408C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-30C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

17-78395613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395613
    reference: chr 17
allele count: 17
allele frequency: 3.800241427102428e-4
allele num: 44734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-15C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-15C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-15C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-327C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-15C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1707C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-393C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-15C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1707C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-78395620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395620
    reference: chr 17
allele count: 1
allele frequency: 2.124044180118946e-5
allele num: 47080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-320G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-386G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-8G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-8G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-8G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-8G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-386G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-386G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-386G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-386G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-8G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-8G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1700G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-386G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.229-8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-78395621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395621
    reference: chr 17
allele count: 1
allele frequency: 2.10508588750421e-5
allele num: 47504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-385G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-319G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-21-7G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-21-7G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-385G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-21-7G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-21-7G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-21-7G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-385G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1699G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.229-7G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-385G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-385G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1699G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.229-7G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

17-78395632-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395632
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395632
    reference: chr 17
allele count: 1
allele frequency: 1.954346466541588e-5
allele num: 51168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.233T>C
  hgvsp: ENSP00000429190.1:p.Val78Ala
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1688T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-308T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-17T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1688T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1688T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1688T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1688T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1688T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-374T>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1688T>C
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val78Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-78395635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395635
    reference: chr 17
allele count: 1
allele frequency: 1.921598770176787e-5
allele num: 52040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.236A>G
  hgvsp: ENSP00000429190.1:p.Tyr79Cys
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-14A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1685A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-371A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1685A>G
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr79Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-78395645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395645
    reference: chr 17
allele count: 1
allele frequency: 1.812119454914468e-5
allele num: 55184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-4C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-4C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.-4C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1675C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-4C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1675C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.246C>A
  hgvsp: ENSP00000429190.1:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1675C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1675C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-295C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1675C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-4C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1675C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-361C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1675C>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser82Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-78395647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395647
    reference: chr 17
allele count: 3
allele frequency: 5.376536793433456e-5
allele num: 55798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.248G>A
  hgvsp: ENSP00000429190.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.-2G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1673G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-359G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-293G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg83His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-78395649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395649
    reference: chr 17
allele count: 1
allele frequency: 1.717740827263983e-5
allele num: 58216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.1A>G
  hgvsp: ENSP00000461060.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1671A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.250A>G
  hgvsp: ENSP00000429190.1:p.Met84Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-357A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.1A>G
  hgvsp: ENSP00000461563.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1671A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.1A>G
  hgvsp: ENSP00000428283.2:p.Met1?
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1671A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-357A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.1A>G
  hgvsp: ENSP00000429603.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1671A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-357A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.1A>G
  hgvsp: ENSP00000459127.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-357A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-357A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-291A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1671A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-357A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1671A>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1671A>G
  variant of: http://identifiers.org/hgnc/26640
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-78395664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395664
    reference: chr 17
allele count: 2
allele frequency: 3.125097659301853e-5
allele num: 63998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-342G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-342G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.16G>C
  hgvsp: ENSP00000428283.2:p.Ala6Pro
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.16G>C
  hgvsp: ENSP00000461060.1:p.Ala6Pro
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.16G>C
  hgvsp: ENSP00000429603.1:p.Ala6Pro
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-276G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-342G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.16G>C
  hgvsp: ENSP00000461563.1:p.Ala6Pro
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.265G>C
  hgvsp: ENSP00000429190.1:p.Ala89Pro
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-342G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-342G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1656G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-342G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-342G>C
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala89Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-78395664-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395664
    reference: chr 17
allele count: 2
allele frequency: 3.125097659301853e-5
allele num: 63998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1656G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.16G>T
  hgvsp: ENSP00000428283.2:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1656G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-276G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.16G>T
  hgvsp: ENSP00000459127.1:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.16G>T
  hgvsp: ENSP00000429603.1:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.16G>T
  hgvsp: ENSP00000461563.1:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.265G>T
  hgvsp: ENSP00000429190.1:p.Ala89Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.16G>T
  hgvsp: ENSP00000461060.1:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1656G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1656G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1656G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-342G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1656G>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala89Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-78395665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395665
    reference: chr 17
allele count: 2
allele frequency: 3.095879384539178e-5
allele num: 64602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.17C>T
  hgvsp: ENSP00000461563.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-341C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.17C>T
  hgvsp: ENSP00000429603.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-341C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-341C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.17C>T
  hgvsp: ENSP00000461060.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-341C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.17C>T
  hgvsp: ENSP00000428283.2:p.Ala6Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.17C>T
  hgvsp: ENSP00000459127.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-341C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.266C>T
  hgvsp: ENSP00000429190.1:p.Ala89Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1655C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-341C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-341C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala89Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-78395666-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395666
    reference: chr 17
allele count: 1
allele frequency: 1.530502923260583e-5
allele num: 65338
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-340C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.18C>G
  hgvsp: ENST00000517295.2:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.18C>G
  hgvsp: ENST00000521565.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.267C>G
  hgvsp: ENST00000518137.1:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.18C>G
  hgvsp: ENST00000522200.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-340C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.18C>G
  hgvsp: ENST00000518644.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.18C>G
  hgvsp: ENST00000523228.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1654C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1654C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1654C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-274C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1654C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-340C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1654C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1654C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-340C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-340C>G
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala89Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78395667-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395667
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395667
    reference: chr 17
allele count: 56
allele frequency: 8.494114791894187e-4
allele num: 65928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-339C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.19C>G
  hgvsp: ENSP00000428283.2:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.19C>G
  hgvsp: ENSP00000461563.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-339C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.19C>G
  hgvsp: ENSP00000429603.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-339C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-339C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.19C>G
  hgvsp: ENSP00000461060.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.19C>G
  hgvsp: ENSP00000459127.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-339C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-273C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1653C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-339C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1653C>G
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro90Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-78395667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395667
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395667
    reference: chr 17
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-339C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.19C>T
  hgvsp: ENSP00000429603.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-339C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.268C>T
  hgvsp: ENSP00000429190.1:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.19C>T
  hgvsp: ENSP00000459127.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-339C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-339C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.19C>T
  hgvsp: ENSP00000428283.2:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-339C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.19C>T
  hgvsp: ENSP00000461563.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.19C>T
  hgvsp: ENSP00000461060.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-273C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1653C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-339C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro90Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-78395672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395672
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395672
    reference: chr 17
allele count: 4
allele frequency: 5.822755327821125e-5
allele num: 68696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-334C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.24C>T
  hgvsp: ENST00000518644.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.24C>T
  hgvsp: ENST00000522200.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-334C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-334C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.24C>T
  hgvsp: ENST00000523228.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.273C>T
  hgvsp: ENST00000518137.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.24C>T
  hgvsp: ENST00000517295.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.24C>T
  hgvsp: ENST00000521565.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-334C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-334C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1648C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-268C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr91Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-78395672-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395672
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395672
    reference: chr 17
allele count: 1
allele frequency: 1.455688831955281e-5
allele num: 68696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-334C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-334C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-334C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.24C>A
  hgvsp: ENSP00000459127.1:p.Tyr8Ter
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-268C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.24C>A
  hgvsp: ENSP00000461563.1:p.Tyr8Ter
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-334C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.24C>A
  hgvsp: ENSP00000428283.2:p.Tyr8Ter
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-334C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-334C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.24C>A
  hgvsp: ENSP00000461060.1:p.Tyr8Ter
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1648C>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.273C>A
  hgvsp: ENSP00000429190.1:p.Tyr91Ter
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-334C>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr91Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-78395673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395673
    reference: chr 17
allele count: 2
allele frequency: 2.871170576243935e-5
allele num: 69658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.274G>A
  hgvsp: ENSP00000429190.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.25G>A
  hgvsp: ENSP00000429603.1:p.Val9Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1647G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.25G>A
  hgvsp: ENSP00000459127.1:p.Val9Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.25G>A
  hgvsp: ENSP00000428283.2:p.Val9Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1647G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1647G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1647G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.25G>A
  hgvsp: ENSP00000461060.1:p.Val9Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1647G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.25G>A
  hgvsp: ENSP00000461563.1:p.Val9Met
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1647G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-333G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1647G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val92Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

17-78395675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395675
    reference: chr 17
allele count: 1
allele frequency: 1.406113782727298e-5
allele num: 71118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1645G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-331G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-331G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.27G>C
  hgvsp: ENST00000522200.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.276G>C
  hgvsp: ENST00000518137.1:c.276G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.27G>C
  hgvsp: ENST00000523228.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-331G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1645G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1645G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1645G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1645G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.27G>C
  hgvsp: ENST00000517295.2:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.27G>C
  hgvsp: ENST00000518644.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.27G>C
  hgvsp: ENST00000521565.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-331G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-265G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-331G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1645G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-331G>C
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1645G>C
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val92Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-78395675-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395675
    reference: chr 17
allele count: 3
allele frequency: 4.218341348181895e-5
allele num: 71118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.27G>T
  hgvsp: ENST00000523228.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.27G>T
  hgvsp: ENST00000518644.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1645G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1645G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-331G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-331G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.276G>T
  hgvsp: ENST00000518137.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1645G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-331G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1645G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1645G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-331G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.27G>T
  hgvsp: ENST00000517295.2:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1645G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.27G>T
  hgvsp: ENST00000521565.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.27G>T
  hgvsp: ENST00000522200.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-331G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-265G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-331G>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-331G>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val92Val
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: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-78395677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395677
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395677
    reference: chr 17
allele count: 3
allele frequency: 4.166898161008945e-5
allele num: 71996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.29C>T
  hgvsp: ENSP00000461060.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-329C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.29C>T
  hgvsp: ENSP00000461563.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.29C>T
  hgvsp: ENSP00000428283.2:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.29C>T
  hgvsp: ENSP00000429603.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-329C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.29C>T
  hgvsp: ENSP00000459127.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.278C>T
  hgvsp: ENSP00000429190.1:p.Ser93Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-329C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1643C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-329C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-329C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-263C>T
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-329C>T
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser93Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-78395678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395678
    reference: chr 17
allele count: 1
allele frequency: 1.369787956824284e-5
allele num: 73004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.279G>A
  hgvsp: ENST00000518137.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1642G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-328G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1642G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-328G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.30G>A
  hgvsp: ENST00000522200.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-328G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-262G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.30G>A
  hgvsp: ENST00000523228.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1642G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-328G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1642G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.30G>A
  hgvsp: ENST00000518644.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.30G>A
  hgvsp: ENST00000517295.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.30G>A
  hgvsp: ENST00000521565.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-328G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-328G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1642G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1642G>A
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1642G>A
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser93Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-78395684-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395684
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395684
    reference: chr 17
allele count: 1
allele frequency: 1.290289282857217e-5
allele num: 77502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458361
  ensembl transcript: ENST00000518907
  gene symbol: ENDOV
  hgvsc: ENST00000518907.1:c.-179-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.36C>G
  hgvsp: ENSP00000461060.1:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.36C>G
  hgvsp: ENSP00000428283.2:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.36C>G
  hgvsp: ENSP00000459127.1:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461194
  ensembl transcript: ENST00000520136
  gene symbol: ENDOV
  hgvsc: ENST00000520136.2:c.-219-322C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.36C>G
  hgvsp: ENSP00000429603.1:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000317810
  ensembl transcript: ENST00000323854
  gene symbol: ENDOV
  hgvsc: ENST00000323854.5:c.229-322C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000460685
  ensembl transcript: ENST00000518901
  gene symbol: ENDOV
  hgvsc: ENST00000518901.1:c.-219-322C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.36C>G
  hgvsp: ENSP00000461563.1:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429442
  ensembl transcript: ENST00000522577
  gene symbol: ENDOV
  hgvsc: ENST00000522577.1:c.229-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458391
  ensembl transcript: ENST00000520284
  gene symbol: ENDOV
  hgvsc: ENST00000520284.1:c.-179-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000430046
  ensembl transcript: ENST00000520484
  gene symbol: ENDOV
  hgvsc: ENST00000520484.1:c.57-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521330
  gene symbol: ENDOV
  hgvsc: ENST00000521330.2:n.238-322C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-322C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1636C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000431036
  ensembl transcript: ENST00000520367
  gene symbol: ENDOV
  hgvsc: ENST00000520367.1:c.229-322C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429183
  ensembl transcript: ENST00000519117
  gene symbol: ENDOV
  hgvsc: ENST00000519117.1:c.229-256C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.285C>G
  hgvsp: ENSP00000429190.1:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe95Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

17-78395685-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78395685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78395685
    reference: chr 17
allele count: 1
allele frequency: 1.27635676724358e-5
allele num: 78348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459127
  ensembl transcript: ENST00000521565
  gene symbol: ENDOV
  hgvsc: ENST00000521565.1:c.37C>G
  hgvsp: ENSP00000459127.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520565
  gene symbol: ENDOV
  hgvsc: ENST00000520565.1:n.326-321C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000428283
  ensembl transcript: ENST00000517295
  gene symbol: ENDOV
  hgvsc: ENST00000517295.2:c.37C>G
  hgvsp: ENSP00000428283.2:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461563
  ensembl transcript: ENST00000522200
  gene symbol: ENDOV
  hgvsc: ENST00000522200.1:c.37C>G
  hgvsp: ENSP00000461563.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461060
  ensembl transcript: ENST00000518644
  gene symbol: ENDOV
  hgvsc: ENST00000518644.1:c.37C>G
  hgvsp: ENSP00000461060.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429603
  ensembl transcript: ENST00000523228
  gene symbol: ENDOV
  hgvsc: ENST00000523228.1:c.37C>G
  hgvsp: ENSP00000429603.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000520118
  gene symbol: ENDOV
  hgvsc: ENST00000520118.1:n.237-1635C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000429190
  ensembl transcript: ENST00000518137
  gene symbol: ENDOV
  hgvsc: ENST00000518137.1:c.286C>G
  hgvsp: ENSP00000429190.1:p.Leu96Val
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000459831
  ensembl transcript: ENST00000523828
  gene symbol: ENDOV
  hgvsc: ENST00000523828.1:c.-179-1635C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000461577
  ensembl transcript: ENST00000517795
  gene symbol: ENDOV
  hgvsc: ENST00000517795.1:c.-179-1635C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl protein: ENSP00000458185
  ensembl transcript: ENST00000522751
  gene symbol: ENDOV
  hgvsc: ENST00000522751.1:c.-219-321C>G
  variant of: http://identifiers.org/hgnc/26640
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173818
  ensembl transcript: ENST00000521830
  gene symbol: ENDOV
  hgvsc: ENST00000521830.1:n.489-1635C>G
  variant of: http://identifiers.org/hgnc/26640
canonical: true
consequence: missense
filter: PASS
hgvs: p.Leu96Val
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.346A>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-352A>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-180+204A>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000427921
ensembl transcript: ENST00000523999
gene symbol: ENDOV
hgvsc: ENST00000523999.1:c.221A>T
hgvsp: ENSP00000427921.1:p.Glu74Val
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521330
gene symbol: ENDOV
hgvsc: ENST00000521330.2:n.230A>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7531
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1092
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26529
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13151
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3039
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 504
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7673
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.007455168245013e-4
allele num: 9926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 5.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 7.80014e5

Annotation
canonical: true
consequence: splice_donor_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429190
ensembl transcript: ENST00000518137
gene symbol: ENDOV
hgvsc: ENST00000518137.1:c.228+1G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-220+212G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-22+1G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000430046
ensembl transcript: ENST00000520484
gene symbol: ENDOV
hgvsc: ENST00000520484.1:c.56+572G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26251
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 864
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8988
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1555
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4086
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12766
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2903
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.127565210854694e-4
allele num: 26606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

FS
type: SiteQuality
SIO_000300: 7.79e-1

DP
type: SiteQuality
SIO_000300: 7.58683e5

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-22+5C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000430046
ensembl transcript: ENST00000520484
gene symbol: ENDOV
hgvsc: ENST00000520484.1:c.56+576C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-180+216C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-180+5C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-345+5C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-220+5C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 462
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1543
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10462
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3643
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25527
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2800
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10754
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.331002331002331e-4
allele num: 4290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.910527139058345e-5
allele num: 25572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 7.40813e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

FS
type: SiteQuality
SIO_000300: 3.118e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000523165
gene symbol: ENDOV
hgvsc: ENST00000523165.1:n.169+7T>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000431036
ensembl transcript: ENST00000520367
gene symbol: ENDOV
hgvsc: ENST00000520367.1:c.228+7T>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521330
gene symbol: ENDOV
hgvsc: ENST00000521330.2:n.237+7T>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458185
ensembl transcript: ENST00000522751
gene symbol: ENDOV
hgvsc: ENST00000522751.1:c.-220+7T>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-220+218T>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429190
ensembl transcript: ENST00000518137
gene symbol: ENDOV
hgvsc: ENST00000518137.1:c.228+7T>C
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 693
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3576
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2784
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12340
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25381
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 830
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10843
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.357378595002357e-4
allele num: 4242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 3.802e0

DP
type: SiteQuality
SIO_000300: 7.36217e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461563
ensembl transcript: ENST00000522200
gene symbol: ENDOV
hgvsc: ENST00000522200.1:c.-22+12G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000428283
ensembl transcript: ENST00000517295
gene symbol: ENDOV
hgvsc: ENST00000517295.2:c.-22+12G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-220+12G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-220+223G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 225
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11682
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3335
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24634
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 2682
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12554
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 791
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1526
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12952
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.253761283851555e-4
allele num: 23928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

QD
type: SiteQuality
SIO_000300: 1.041e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 3.785e0

DP
type: SiteQuality
SIO_000300: 7.17587e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429190
ensembl transcript: ENST00000518137
gene symbol: ENDOV
hgvsc: ENST00000518137.1:c.228+18C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521847
gene symbol: ENDOV
hgvsc: ENST00000521847.1:n.353+18C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-220+18C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-22+18C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 23686
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10543
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14923
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1488
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3092
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2534
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.725782414307004e-4
allele num: 2684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.707e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

QD
type: SiteQuality
SIO_000300: 1.21e1

DP
type: SiteQuality
SIO_000300: 6.9121e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429190
ensembl transcript: ENST00000518137
gene symbol: ENDOV
hgvsc: ENST00000518137.1:c.228+30G>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-220+241G>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000427921
ensembl transcript: ENST00000523999
gene symbol: ENDOV
hgvsc: ENST00000523999.1:c.228+30G>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.228+30G>C
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2309
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1417
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2801
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22586
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7224
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19262
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17085
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19650
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.192107995846313e-4
allele num: 1926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 6.34731e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

VQSLOD
type: SiteQuality
SIO_000300: -6.433e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 3.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-180+250G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429190
ensembl transcript: ENST00000518137
gene symbol: ENDOV
hgvsc: ENST00000518137.1:c.228+39G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458361
ensembl transcript: ENST00000518907
gene symbol: ENDOV
hgvsc: ENST00000518907.1:c.-180+250G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520118
gene symbol: ENDOV
hgvsc: ENST00000520118.1:n.236+39G>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2186
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23622
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 20297
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 870
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4878
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1381
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2824
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20045
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6189
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 6.04461e5

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 9.42e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520118
gene symbol: ENDOV
hgvsc: ENST00000520118.1:n.236+49G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429183
ensembl transcript: ENST00000519117
gene symbol: ENDOV
hgvsc: ENST00000519117.1:c.228+49G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461060
ensembl transcript: ENST00000518644
gene symbol: ENDOV
hgvsc: ENST00000518644.1:c.-22+49G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000428283
ensembl transcript: ENST00000517295
gene symbol: ENDOV
hgvsc: ENST00000517295.2:c.-22+49G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 2893
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20498
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 784
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24207
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 1374
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2163
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4138
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9119
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19147
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1087
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 2.209131075110457e-3
allele num: 1358
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 7.416e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.744e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.25e-2

DP
type: SiteQuality
SIO_000300: 6.01193e5

QD
type: SiteQuality
SIO_000300: 1.135e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458361
ensembl transcript: ENST00000518907
gene symbol: ENDOV
hgvsc: ENST00000518907.1:c.-180+3762G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458185
ensembl transcript: ENST00000522751
gene symbol: ENDOV
hgvsc: ENST00000522751.1:c.-219-2834G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6815
bin: 2.5e0
variant carriers: 1

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

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

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

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

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

GenotypeDepth
all individuals: 505
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1952
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4729
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.701e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.8071e4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

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

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

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

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

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

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

GenotypeDepth
all individuals: 53
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 6797
bin: 2.5e0
variant carriers: 3

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

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

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

GenotypeDepth
all individuals: 698
bin: 7.5e0
variant carriers: 3

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 801
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5955
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 4

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.889e1

QD
type: SiteQuality
SIO_000300: 6.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 2.0701e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-180+1478G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.488+1478G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521330
gene symbol: ENDOV
hgvsc: ENST00000521330.2:n.238-2783G>T
variant of: http://identifiers.org/hgnc/26640

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

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

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

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

GenotypeDepth
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7189
bin: 2.5e0
variant carriers: 5

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

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

GenotypeDepth
all individuals: 1248
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 12
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 73
bin: 1.25e1
variant carriers: 1

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 903
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6473
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 671
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 2
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.173913043478261e-2
allele num: 92
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.675e-1

DP
type: SiteQuality
SIO_000300: 2.5762e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0153e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.169999999999999e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.228+3610C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-180+3610C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000427921
ensembl transcript: ENST00000523999
gene symbol: ENDOV
hgvsc: ENST00000523999.1:c.229-155C>T
variant of: http://identifiers.org/hgnc/26640

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

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

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

GenotypeDepth
all individuals: 1604
bin: 7.5e0
variant carriers: 2

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

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

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

GenotypeDepth
all individuals: 7213
bin: 2.5e0
variant carriers: 2

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

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

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

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

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

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 208
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6589
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 643
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 2.25e1
variant carriers: 1

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 3.125e-2
allele num: 32
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.39e-2

FS
type: SiteQuality
SIO_000300: 3.047e0

DP
type: SiteQuality
SIO_000300: 2.8975e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e0

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461060
ensembl transcript: ENST00000518644
gene symbol: ENDOV
hgvsc: ENST00000518644.1:c.-21-2368G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-180+3850G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000427921
ensembl transcript: ENST00000523999
gene symbol: ENDOV
hgvsc: ENST00000523999.1:c.229-126G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 364
bin: 1.25e1
variant carriers: 0

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

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

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

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

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

GenotypeDepth
all individuals: 5649
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4036
bin: 7.5e0
variant carriers: 3

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

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

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

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 210
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3445
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.320000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.5e0

DP
type: SiteQuality
SIO_000300: 4.8941e4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521330
gene symbol: ENDOV
hgvsc: ENST00000521330.2:n.238-2745A>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-21-2367A>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.228+3640A>T
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 5560
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 386
bin: 1.25e1
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4142
bin: 7.5e0
variant carriers: 1

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

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

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

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

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

GenotypeDepth
all individuals: 115
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5192
bin: 7.5e0
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 433
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 309
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.212389380530973e-3
allele num: 452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

FS
type: SiteQuality
SIO_000300: 2.772e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 4.9871e4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-180+3670G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-219-2715G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429183
ensembl transcript: ENST00000519117
gene symbol: ENDOV
hgvsc: ENST00000519117.1:c.229-2649G>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 978
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 4784
bin: 7.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 688
bin: 2.25e1
variant carriers: 1

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

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

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

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

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

GenotypeDepth
all individuals: 276
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 3768
bin: 2.5e0
variant carriers: 1

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

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

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

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

GenotypeDepth
all individuals: 67
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.149425287356322e-2
allele num: 348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.167e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.682e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 7.6211e4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458361
ensembl transcript: ENST00000518907
gene symbol: ENDOV
hgvsc: ENST00000518907.1:c.-180+3903C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-21-2315C>T
variant of: http://identifiers.org/hgnc/26640

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

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

GenotypeDepth
all individuals: 825
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2435
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 319
bin: 2.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 3408
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3315
bin: 7.5e0
variant carriers: 1

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

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

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

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

GenotypeDepth
all individuals: 58
bin: 3.25e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 3221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 61
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 4.5004500450045e-4
allele num: 4444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.936e0

DP
type: SiteQuality
SIO_000300: 1.10118e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.05e-2

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.143e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.228+3721C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-219-2664C>T
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 1324
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4162
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3382
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1082
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.860411899313501e-4
allele num: 3496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.367240907847963e-4
allele num: 7314
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.07e-2

DP
type: SiteQuality
SIO_000300: 1.54493e5

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.727e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.045e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-180+3933G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-180+3722G>A
variant of: http://identifiers.org/hgnc/26640

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

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

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

GenotypeDepth
all individuals: 4193
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 214
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1285
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3387
bin: 2.5e0
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.35685210312076e-4
allele num: 7370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.275e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.5568e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461060
ensembl transcript: ENST00000518644
gene symbol: ENDOV
hgvsc: ENST00000518644.1:c.-21-2268A>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-21-2268A>G
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 4249
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 474
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 1092
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1282
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3437
bin: 2.5e0
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4488
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.61945e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.814e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-219-2610A>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458361
ensembl transcript: ENST00000518907
gene symbol: ENDOV
hgvsc: ENST00000518907.1:c.-179-3924A>G
variant of: http://identifiers.org/hgnc/26640

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

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

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

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3540
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4252
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 842
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.874015748031496e-4
allele num: 7620
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.534e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 2.111e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.62368e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.03e-2

QD
type: SiteQuality
SIO_000300: 1.411e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000317810
ensembl transcript: ENST00000323854
gene symbol: ENDOV
hgvsc: ENST00000323854.5:c.229-2608G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000430046
ensembl transcript: ENST00000520484
gene symbol: ENDOV
hgvsc: ENST00000520484.1:c.57-3922G>A
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4254
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3552
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1340
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 264
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4573
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.624671916010499e-4
allele num: 7620
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.23e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 8.757999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: -1.4e0

DP
type: SiteQuality
SIO_000300: 1.62364e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461060
ensembl transcript: ENST00000518644
gene symbol: ENDOV
hgvsc: ENST00000518644.1:c.-21-2216C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000428283
ensembl transcript: ENST00000517295
gene symbol: ENDOV
hgvsc: ENST00000517295.2:c.-21-2216C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 3499
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 55
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4244
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1336
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 669
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3239
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.066666666666667e-3
allele num: 3750
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.519756838905775e-3
allele num: 658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.771e0

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

DP
type: SiteQuality
SIO_000300: 1.61034e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-21-2213A>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.488+1670A>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 1338
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 626
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3533
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4247
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.672897196261682e-3
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.576e-1

DP
type: SiteQuality
SIO_000300: 1.60698e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 9.31e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.-21-2169dupA
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.488+1714dupA
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1342
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3522
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4189
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 392
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 493
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.874015748031496e-4
allele num: 7620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.5775e5

MQ
type: SiteQuality
SIO_000300: 5.992e1

QD
type: SiteQuality
SIO_000300: 1.439e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-180+1716C>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461060
ensembl transcript: ENST00000518644
gene symbol: ENDOV
hgvsc: ENST00000518644.1:c.-21-2167C>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 72
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4172
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3492
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1338
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 8

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

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 21

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

GenotypeQuality
all individuals: 3119
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 2.887139107611549e-3
allele num: 7620
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.58605e5

QD
type: SiteQuality
SIO_000300: 1.157e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.334e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-180+1732delC
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461060
ensembl transcript: ENST00000518644
gene symbol: ENDOV
hgvsc: ENST00000518644.1:c.-21-2151delC
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3548
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 4.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4157
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1340
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 6.597e0

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 1.57162e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.19e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461563
ensembl transcript: ENST00000522200
gene symbol: ENDOV
hgvsc: ENST00000522200.1:c.-21-2149C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000431036
ensembl transcript: ENST00000520367
gene symbol: ENDOV
hgvsc: ENST00000520367.1:c.229-2527C>T
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3499
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 500
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4146
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1335
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 387
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.75027502750275e-4
allele num: 3636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 1.56837e5

VQSLOD
type: SiteQuality
SIO_000300: -1.372e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.185e0

FS
type: SiteQuality
SIO_000300: 7.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-179-3816G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000431036
ensembl transcript: ENST00000520367
gene symbol: ENDOV
hgvsc: ENST00000520367.1:c.229-2502G>A
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 189
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3910
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3543
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 507
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 377
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1301
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2888
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 31
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.253480430785396e-4
allele num: 7614
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.155e-1

DP
type: SiteQuality
SIO_000300: 1.54979e5

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 2.702e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.771e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.229-1737T>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 2245
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13249
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26284
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9696
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 348
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5446
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10115
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.57205559619605e-5
allele num: 21872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.392e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-219-419C>T
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 3145
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1237
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12952
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 26509
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9732
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2270
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 10238
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4973
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3658
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5258
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.141552511415525e-4
allele num: 8760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.092562284051645e-5
allele num: 21996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.849114703618168e-4
allele num: 2598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 6.48562e5

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429603
ensembl transcript: ENST00000523228
gene symbol: ENDOV
hgvsc: ENST00000523228.1:c.-21-40G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 2404
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12681
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26734
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1267
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2061
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9701
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3370
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4360
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4660
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10243
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.53021654435082e-5
allele num: 22074
num of homozygotes: 0

European (Finnish)
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: 3876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.327e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 6.54417e5

MQRankSum
type: SiteQuality
SIO_000300: -1.028e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-179-1728G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2484
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27396
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9672
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1292
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11902
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3879
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 621
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9959
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22872
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 766
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.293103448275862e-3
allele num: 2320
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.575e1

FS
type: SiteQuality
SIO_000300: 7.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.432e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 6.6558e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQ
type: SiteQuality
SIO_000300: 5.884e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458361
ensembl transcript: ENST00000518907
gene symbol: ENDOV
hgvsc: ENST00000518907.1:c.-179-1725G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 1338
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11268
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27853
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9667
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2564
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4135
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9672
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.521432173474534e-4
allele num: 3966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.722e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

DP
type: SiteQuality
SIO_000300: 6.74655e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461563
ensembl transcript: ENST00000522200
gene symbol: ENDOV
hgvsc: ENST00000522200.1:c.-21-32T>C
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27961
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1345
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1447
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4163
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11086
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9710
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2584
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9577
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3589
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.76543e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 5.83e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-219-408C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4323
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2635
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1373
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1386
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28261
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9686
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10636
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9326
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4902
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.012531328320802e-4
allele num: 3990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

VQSLOD
type: SiteQuality
SIO_000300: -8.169e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

FS
type: SiteQuality
SIO_000300: 1.0562e1

DP
type: SiteQuality
SIO_000300: 6.83063e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461563
ensembl transcript: ENST00000522200
gene symbol: ENDOV
hgvsc: ENST00000522200.1:c.-21-15C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9496
bin: 1.25e1
variant carriers: 8

GenotypeDepth
all individuals: 657
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5521
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30018
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 2953
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1515
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7566
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1299
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 245
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.799392097264438e-4
allele num: 2632
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 3.616200578592093e-3
allele num: 4148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.102059233735335e-5
allele num: 24378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1118
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.26672e5

QD
type: SiteQuality
SIO_000300: 1.439e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.953e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-179-1700G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458185
ensembl transcript: ENST00000522751
gene symbol: ENDOV
hgvsc: ENST00000522751.1:c.-219-386G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 6107
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 666
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6234
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 30248
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1564
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9540
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1574
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3130
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6016
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6326
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.072041166380789e-4
allele num: 9328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 7.49862e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-219-385G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458185
ensembl transcript: ENST00000522751
gene symbol: ENDOV
hgvsc: ENST00000522751.1:c.-219-385G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 30252
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3126
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1571
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 666
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6195
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9563
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6129
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5917
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28926
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1262
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.08641975308642e-4
allele num: 3240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25964
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.264e0

DP
type: SiteQuality
SIO_000300: 7.51795e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

FS
type: SiteQuality
SIO_000300: 1.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

QD
type: SiteQuality
SIO_000300: 5.15e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.489-1688T>C
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 1980
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7172
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29602
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9877
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3270
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4956
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.542832849146177e-5
allele num: 28226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.80476e5

QD
type: SiteQuality
SIO_000300: 7.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.336000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429183
ensembl transcript: ENST00000519117
gene symbol: ENDOV
hgvsc: ENST00000519117.1:c.229-305A>G
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 9869
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7413
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4706
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29455
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1580
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3305
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4643
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.474635163307853e-5
allele num: 28780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 4.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 7.87495e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.592e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.489-1675C>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3989
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28434
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8214
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10101
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1602
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2660
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3450
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4032
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.079866888519135e-4
allele num: 4808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 8.1227e5

VQSLOD
type: SiteQuality
SIO_000300: -4.029e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

FS
type: SiteQuality
SIO_000300: 4.662e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461563
ensembl transcript: ENST00000522200
gene symbol: ENDOV
hgvsc: ENST00000522200.1:c.-2G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 3038
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8479
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27837
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1637
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3706
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3541
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10220
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.439564685427266e-5
allele num: 31058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3924
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.523977788995457e-4
allele num: 3962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.861e-1

QD
type: SiteQuality
SIO_000300: 7.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

DP
type: SiteQuality
SIO_000300: 8.24927e5

FS
type: SiteQuality
SIO_000300: 8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520565
gene symbol: ENDOV
hgvsc: ENST00000520565.1:n.326-357A>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.489-1671A>G
variant of: http://identifiers.org/hgnc/26640

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

GenotypeDepth
all individuals: 27655
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9038
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3484
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10209
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2852
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3593
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1629
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.393743257820927e-4
allele num: 1854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.494999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 7.87e0

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 8.3322e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459127
ensembl transcript: ENST00000521565
gene symbol: ENDOV
hgvsc: ENST00000521565.1:c.16G>C
hgvsp: ENSP00000459127.1:p.Ala6Pro
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.489-1656G>C
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3867
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10362
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2692
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25254
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10524
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4056
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 766
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.782415136338342e-5
allele num: 35940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.039151712887439e-4
allele num: 4904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 6.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

VQSLOD
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 8.80087e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-179-1656G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-179-1656G>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 25254
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10362
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3867
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2692
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10524
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.078303425774878e-4
allele num: 4904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.35e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

DP
type: SiteQuality
SIO_000300: 8.80087e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

FS
type: SiteQuality
SIO_000300: 6.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.229-1655C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429183
ensembl transcript: ENST00000519117
gene symbol: ENDOV
hgvsc: ENST00000519117.1:c.229-275C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 1683
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10704
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2645
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10344
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25041
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4084
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3936
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25961
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3650
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10812
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.09819555182543e-4
allele num: 4766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.013693113169553e-4
allele num: 4966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36312
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.8406e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

FS
type: SiteQuality
SIO_000300: 6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461577
ensembl transcript: ENST00000517795
gene symbol: ENDOV
hgvsc: ENST00000517795.1:c.-179-1654C>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520565
gene symbol: ENDOV
hgvsc: ENST00000520565.1:n.326-340C>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-179-1654C>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-219-340C>G
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10955
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10342
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3932
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4126
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24829
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2577
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1681
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 796
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1061
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25835
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.82882223847842e-4
allele num: 5468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.08e-2

DP
type: SiteQuality
SIO_000300: 8.88898e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.079000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

QD
type: SiteQuality
SIO_000300: 1.088e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-219-339C>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429190
ensembl transcript: ENST00000518137
gene symbol: ENDOV
hgvsc: ENST00000518137.1:c.268C>G
hgvsp: ENSP00000429190.1:p.Pro90Ala
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4176
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2530
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 11113
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 24592
bin: 7.5e0
variant carriers: 6

GenotypeDepth
all individuals: 3994
bin: 1.75e1
variant carriers: 9

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 82
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10329
bin: 1.25e1
variant carriers: 12

GenotypeDepth
all individuals: 56
bin: 9.75e1
variant carriers: 13

GenotypeDepth
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25454
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1440
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10931
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1987
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1104
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

South Asian
type: Population
allele count: 55
allele frequency: 5.175983436853002e-3
allele num: 10626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.164502164502165e-3
allele num: 462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 8.9518e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 1.929e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000460685
ensembl transcript: ENST00000518901
gene symbol: ENDOV
hgvsc: ENST00000518901.1:c.-219-339C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520118
gene symbol: ENDOV
hgvsc: ENST00000520118.1:n.237-1653C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 24592
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10329
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3994
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11113
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4176
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2530
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1440
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.826817683595177e-4
allele num: 5474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.929e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 8.9518e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520565
gene symbol: ENDOV
hgvsc: ENST00000520565.1:n.326-334C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-219-334C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 23475
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12716
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4367
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10011
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3875
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1729
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2255
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 800
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24738
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.804402742692169e-4
allele num: 5542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.847063169560399e-4
allele num: 10828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.776198934280639e-4
allele num: 5630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.384e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 1.482e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 9.21079e5

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429603
ensembl transcript: ENST00000523228
gene symbol: ENDOV
hgvsc: ENST00000523228.1:c.24C>A
hgvsp: ENSP00000429603.1:p.Tyr8Ter
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-179-1648C>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3875
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1729
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23475
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12716
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 47
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2255
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4367
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10011
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24738
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12940
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.961553550411926e-4
allele num: 5098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.384e0

FS
type: SiteQuality
SIO_000300: 1.482e0

DP
type: SiteQuality
SIO_000300: 9.21079e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429183
ensembl transcript: ENST00000519117
gene symbol: ENDOV
hgvsc: ENST00000519117.1:c.229-267G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000430046
ensembl transcript: ENST00000520484
gene symbol: ENDOV
hgvsc: ENST00000520484.1:c.57-1647G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1750
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2164
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23134
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9846
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3794
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 46
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.546992002445112e-5
allele num: 39262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.191176470588235e-5
allele num: 10880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.923e0

VQSLOD
type: SiteQuality
SIO_000300: -4.159e-1

DP
type: SiteQuality
SIO_000300: 9.30564e5

QD
type: SiteQuality
SIO_000300: 9.76e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000461194
ensembl transcript: ENST00000520136
gene symbol: ENDOV
hgvsc: ENST00000520136.2:c.-219-331G>C
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458361
ensembl transcript: ENST00000518907
gene symbol: ENDOV
hgvsc: ENST00000518907.1:c.-179-1645G>C
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 14097
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3701
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9719
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2065
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22562
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1756
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4531
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.491280518186348e-5
allele num: 40140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 9.4281e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
SIO_000300: 1.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000521830
gene symbol: ENDOV
hgvsc: ENST00000521830.1:n.489-1645G>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458391
ensembl transcript: ENST00000520284
gene symbol: ENDOV
hgvsc: ENST00000520284.1:c.-179-1645G>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9719
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4531
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3701
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2065
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1756
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22562
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14097
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.699524133242692e-4
allele num: 5884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.982561036372695e-5
allele num: 40140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 9.4281e5

FS
type: SiteQuality
SIO_000300: 1.205e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.081e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl transcript: ENST00000520565
gene symbol: ENDOV
hgvsc: ENST00000520565.1:n.326-329C>T
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000429442
ensembl transcript: ENST00000522577
gene symbol: ENDOV
hgvsc: ENST00000522577.1:c.229-1643C>T
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 22034
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3702
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9614
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 81
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14609
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1977
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1777
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 628
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.712328767123288e-4
allele num: 5840
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.669449081803005e-4
allele num: 5990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.458573044205143e-5
allele num: 40674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 3.335e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

DP
type: SiteQuality
SIO_000300: 9.5445e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-179-1642G>A
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000317810
ensembl transcript: ENST00000323854
gene symbol: ENDOV
hgvsc: ENST00000323854.5:c.229-328G>A
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 4892
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1904
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15141
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9475
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1798
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21552
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23053
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.423419930205506e-5
allele num: 41264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.05e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 9.6567e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000459831
ensembl transcript: ENST00000523828
gene symbol: ENDOV
hgvsc: ENST00000523828.1:c.-179-1636C>G
variant of: http://identifiers.org/hgnc/26640

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000173818
ensembl protein: ENSP00000458185
ensembl transcript: ENST00000522751
gene symbol: ENDOV
hgvsc: ENST00000522751.1:c.-219-322C>G
variant of: http://identifiers.org/hgnc/26640

GenotypeDepth
all individuals: 1617
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8862
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19895
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5616
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17119
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3460
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1848
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.276245106073022e-5
allele num: 43932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.007183e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.084e1