3-130683926-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683926
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683926
    reference: chr 3
allele count: 2
allele frequency: 1.704797299601078e-5
allele num: 117316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1074+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.957+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.183+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1122+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1122+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1074+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.339+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1122+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1224+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1074+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1107+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1292+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1122+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1074+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.983+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1122+37A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1122+37A>T
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

3-130683929-C-CTGTCCTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683936
    reference: chr 3
allele count: 1
allele frequency: 8.572800219463686e-6
allele num: 116648
alternate allele: CTGTCCTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1107+40_1107+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.957+40_957+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1074+40_1074+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1292+40_1292+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.983+40_983+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1122+40_1122+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.339+40_339+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1122+40_1122+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1074+40_1074+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1122+40_1122+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1122+40_1122+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.183+40_183+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1122+40_1122+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1074+40_1074+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1122+40_1122+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1224+40_1224+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1074+40_1074+41insTGTCCTA
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-130683929-C-CTGTCCTACTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683939
    reference: chr 3
allele count: 2
allele frequency: 1.714560043892737e-5
allele num: 116648
alternate allele: CTGTCCTACTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-130683929-C-CTGTCCTACTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683941
    reference: chr 3
allele count: 2
allele frequency: 1.714560043892737e-5
allele num: 116648
alternate allele: CTGTCCTACTTCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-130683930-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683930
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683930
    reference: chr 3
allele count: 1
allele frequency: 8.666262241095416e-6
allele num: 115390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.339+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1224+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1122+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1074+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1122+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1122+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1107+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.957+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1074+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1122+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1292+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1122+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.983+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1074+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.183+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1122+41C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1074+41C>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

3-130683933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683933
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683933
    reference: chr 3
allele count: 1
allele frequency: 8.659508139937652e-6
allele num: 115480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1074+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1122+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.957+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1107+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.183+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1122+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1074+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1224+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1074+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1122+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1122+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1074+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1122+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1292+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1122+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.983+44T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.339+44T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

3-130683935-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683935
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683935
    reference: chr 3
allele count: 1
allele frequency: 8.67694016382063e-6
allele num: 115248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.957+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1292+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1074+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1122+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1122+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.983+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1074+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1122+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1224+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1074+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1074+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1107+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.183+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1122+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.339+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1122+46A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1122+46A>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

3-130683941-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130683941
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130683941
    reference: chr 3
allele count: 1
allele frequency: 8.742940075888719e-6
allele num: 114378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1074+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1122+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.957+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.339+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1122+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1122+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1292+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1122+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.983+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1122+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1074+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.183+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1122+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1107+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1224+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1074+52T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1074+52T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-130685954-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130685954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130685954
    reference: chr 3
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1123-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.984-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1123-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1123-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1123-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1075-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1123-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.340-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1075-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1075-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.184-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1123-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1225-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.958-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1075-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1293-35T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1108-35T>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

3-130685959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130685959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130685959
    reference: chr 3
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1075-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.958-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1123-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1293-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1123-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1123-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1123-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1075-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.184-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1075-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.984-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1225-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1123-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1108-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.340-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1123-30G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1075-30G>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-130685968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130685968
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130685968
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1075-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1123-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.984-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1108-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1075-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1075-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1123-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1123-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.184-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1123-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1293-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1075-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1123-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1123-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1225-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.340-21A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.958-21A>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-130685985-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130685985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130685985
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1123-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1123-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.340-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1075-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1075-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.184-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1123-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1123-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.984-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.958-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1108-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1225-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1123-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1075-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1123-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1293-4T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1075-4T>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1225-4T>G
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

3-130686004-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686004
    reference: chr 3
allele count: 6
allele frequency: 4.942827956634923e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1090T>A
  hgvsp: ENSP00000422872.1:p.Tyr364Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.999T>A
  hgvsp: ENSP00000425228.1:p.Tyr334Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1090T>A
  hgvsp: ENSP00000421326.2:p.Tyr364Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1138T>A
  hgvsp: ENSP00000424783.1:p.Tyr380Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.973T>A
  hgvsp: ENSP00000425320.1:p.Tyr325Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.199T>A
  hgvsp: ENSP00000422489.1:p.Tyr67Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1240T>A
  hgvsp: ENSP00000376914.4:p.Tyr414Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1138T>A
  hgvsp: ENSP00000329664.8:p.Tyr380Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1138T>A
  hgvsp: ENSP00000352665.3:p.Tyr380Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1090T>A
  hgvsp: ENSP00000423330.1:p.Tyr364Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1138T>A
  hgvsp: ENSP00000395809.2:p.Tyr380Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1123T>A
  hgvsp: ENSP00000432956.2:p.Tyr375Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1138T>A
  hgvsp: ENSP00000427461.1:p.Tyr380Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1090T>A
  hgvsp: ENSP00000423774.1:p.Tyr364Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1138T>A
  hgvsp: ENSP00000402677.2:p.Tyr380Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.355T>A
  hgvsp: ENSP00000422890.1:p.Tyr119Asn
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1308T>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr414Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

3-130686005-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686005
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686005
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1139A>G
  hgvsp: ENSP00000329664.8:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1139A>G
  hgvsp: ENSP00000424783.1:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.356A>G
  hgvsp: ENSP00000422890.1:p.Tyr119Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1091A>G
  hgvsp: ENSP00000423774.1:p.Tyr364Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1139A>G
  hgvsp: ENSP00000427461.1:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1139A>G
  hgvsp: ENSP00000395809.2:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1091A>G
  hgvsp: ENSP00000422872.1:p.Tyr364Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1139A>G
  hgvsp: ENSP00000352665.3:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1000A>G
  hgvsp: ENSP00000425228.1:p.Tyr334Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.200A>G
  hgvsp: ENSP00000422489.1:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.974A>G
  hgvsp: ENSP00000425320.1:p.Tyr325Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1124A>G
  hgvsp: ENSP00000432956.2:p.Tyr375Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1091A>G
  hgvsp: ENSP00000421326.2:p.Tyr364Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1309A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1091A>G
  hgvsp: ENSP00000423330.1:p.Tyr364Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1139A>G
  hgvsp: ENSP00000402677.2:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1241A>G
  hgvsp: ENSP00000376914.4:p.Tyr414Cys
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr414Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-130686010-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686010
    reference: chr 3
allele count: 5
allele frequency: 4.118955432902216e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.979C>A
  hgvsp: ENSP00000425320.1:p.Gln327Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1129C>A
  hgvsp: ENSP00000432956.2:p.Gln377Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1144C>A
  hgvsp: ENSP00000352665.3:p.Gln382Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1096C>A
  hgvsp: ENSP00000423774.1:p.Gln366Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1096C>A
  hgvsp: ENSP00000423330.1:p.Gln366Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1314C>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1144C>A
  hgvsp: ENSP00000427461.1:p.Gln382Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.205C>A
  hgvsp: ENSP00000422489.1:p.Gln69Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1096C>A
  hgvsp: ENSP00000422872.1:p.Gln366Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1144C>A
  hgvsp: ENSP00000395809.2:p.Gln382Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1144C>A
  hgvsp: ENSP00000329664.8:p.Gln382Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1144C>A
  hgvsp: ENSP00000402677.2:p.Gln382Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1246C>A
  hgvsp: ENSP00000376914.4:p.Gln416Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1144C>A
  hgvsp: ENSP00000424783.1:p.Gln382Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1096C>A
  hgvsp: ENSP00000421326.2:p.Gln366Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.361C>A
  hgvsp: ENSP00000422890.1:p.Gln121Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1005C>A
  hgvsp: ENSP00000425228.1:p.Gln336Lys
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln416Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-130686010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686010
    reference: chr 3
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1005C>G
  hgvsp: ENSP00000425228.1:p.Gln336Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.361C>G
  hgvsp: ENSP00000422890.1:p.Gln121Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.205C>G
  hgvsp: ENSP00000422489.1:p.Gln69Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1144C>G
  hgvsp: ENSP00000329664.8:p.Gln382Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1096C>G
  hgvsp: ENSP00000423774.1:p.Gln366Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1314C>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1096C>G
  hgvsp: ENSP00000423330.1:p.Gln366Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1096C>G
  hgvsp: ENSP00000421326.2:p.Gln366Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1129C>G
  hgvsp: ENSP00000432956.2:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1144C>G
  hgvsp: ENSP00000427461.1:p.Gln382Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1144C>G
  hgvsp: ENSP00000395809.2:p.Gln382Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1144C>G
  hgvsp: ENSP00000424783.1:p.Gln382Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1144C>G
  hgvsp: ENSP00000402677.2:p.Gln382Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1096C>G
  hgvsp: ENSP00000422872.1:p.Gln366Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1246C>G
  hgvsp: ENSP00000376914.4:p.Gln416Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.979C>G
  hgvsp: ENSP00000425320.1:p.Gln327Glu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1144C>G
  hgvsp: ENSP00000352665.3:p.Gln382Glu
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln416Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-130686012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686012
    reference: chr 3
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1316A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1146A>G
  hgvsp: ENST00000510168.1:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1146A>G
  hgvsp: ENST00000359644.3:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1146A>G
  hgvsp: ENST00000422190.2:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1098A>G
  hgvsp: ENST00000504948.1:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.981A>G
  hgvsp: ENST00000504381.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1098A>G
  hgvsp: ENST00000513801.1:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1098A>G
  hgvsp: ENST00000507488.2:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1248A>G
  hgvsp: ENST00000393221.4:c.1248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1146A>G
  hgvsp: ENST00000328560.8:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.363A>G
  hgvsp: ENST00000515854.1:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1007A>G
  hgvsp: ENST00000504612.1:c.1007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1146A>G
  hgvsp: ENST00000508532.1:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.207A>G
  hgvsp: ENST00000504571.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1131A>G
  hgvsp: ENST00000533801.2:c.1131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1146A>G
  hgvsp: ENST00000428331.2:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1098A>G
  hgvsp: ENST00000505330.1:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln416Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-130686014-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686014
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686014
    reference: chr 3
allele count: 7
allele frequency: 5.766537606063102e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1148T>A
  hgvsp: ENSP00000427461.1:p.Phe383Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1148T>A
  hgvsp: ENSP00000395809.2:p.Phe383Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1100T>A
  hgvsp: ENSP00000423774.1:p.Phe367Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1148T>A
  hgvsp: ENSP00000402677.2:p.Phe383Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1250T>A
  hgvsp: ENSP00000376914.4:p.Phe417Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1148T>A
  hgvsp: ENSP00000424783.1:p.Phe383Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1100T>A
  hgvsp: ENSP00000423330.1:p.Phe367Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.983T>A
  hgvsp: ENSP00000425320.1:p.Phe328Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1148T>A
  hgvsp: ENSP00000329664.8:p.Phe383Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1100T>A
  hgvsp: ENSP00000421326.2:p.Phe367Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1148T>A
  hgvsp: ENSP00000352665.3:p.Phe383Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1009T>A
  hgvsp: ENSP00000425228.1:p.Phe337Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.209T>A
  hgvsp: ENSP00000422489.1:p.Phe70Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1133T>A
  hgvsp: ENSP00000432956.2:p.Phe378Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1318T>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1100T>A
  hgvsp: ENSP00000422872.1:p.Phe367Tyr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.365T>A
  hgvsp: ENSP00000422890.1:p.Phe122Tyr
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe417Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-130686014-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686014
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686014
    reference: chr 3
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.365T>C
  hgvsp: ENSP00000422890.1:p.Phe122Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1148T>C
  hgvsp: ENSP00000329664.8:p.Phe383Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.983T>C
  hgvsp: ENSP00000425320.1:p.Phe328Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1250T>C
  hgvsp: ENSP00000376914.4:p.Phe417Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1100T>C
  hgvsp: ENSP00000421326.2:p.Phe367Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1148T>C
  hgvsp: ENSP00000427461.1:p.Phe383Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1318T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1148T>C
  hgvsp: ENSP00000352665.3:p.Phe383Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1100T>C
  hgvsp: ENSP00000423774.1:p.Phe367Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1100T>C
  hgvsp: ENSP00000423330.1:p.Phe367Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1148T>C
  hgvsp: ENSP00000424783.1:p.Phe383Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.209T>C
  hgvsp: ENSP00000422489.1:p.Phe70Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1133T>C
  hgvsp: ENSP00000432956.2:p.Phe378Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1009T>C
  hgvsp: ENSP00000425228.1:p.Phe337Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1148T>C
  hgvsp: ENSP00000395809.2:p.Phe383Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1100T>C
  hgvsp: ENSP00000422872.1:p.Phe367Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1148T>C
  hgvsp: ENSP00000402677.2:p.Phe383Ser
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe417Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-130686019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686019
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1153G>A
  hgvsp: ENSP00000329664.8:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1105G>A
  hgvsp: ENSP00000421326.2:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1153G>A
  hgvsp: ENSP00000402677.2:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1105G>A
  hgvsp: ENSP00000423774.1:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.988G>A
  hgvsp: ENSP00000425320.1:p.Glu330Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1105G>A
  hgvsp: ENSP00000422872.1:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.214G>A
  hgvsp: ENSP00000422489.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.370G>A
  hgvsp: ENSP00000422890.1:p.Glu124Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1255G>A
  hgvsp: ENSP00000376914.4:p.Glu419Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1014G>A
  hgvsp: ENSP00000425228.1:p.Glu339Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1153G>A
  hgvsp: ENSP00000427461.1:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1153G>A
  hgvsp: ENSP00000424783.1:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1153G>A
  hgvsp: ENSP00000395809.2:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1153G>A
  hgvsp: ENSP00000352665.3:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1138G>A
  hgvsp: ENSP00000432956.2:p.Glu380Lys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1323G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1105G>A
  hgvsp: ENSP00000423330.1:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu419Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-130686024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686024
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1158G>A
  hgvsp: ENST00000428331.2:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.219G>A
  hgvsp: ENST00000504571.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1019G>A
  hgvsp: ENST00000504612.1:c.1019G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1110G>A
  hgvsp: ENST00000513801.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1260G>A
  hgvsp: ENST00000393221.4:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1143G>A
  hgvsp: ENST00000533801.2:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1110G>A
  hgvsp: ENST00000507488.2:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1158G>A
  hgvsp: ENST00000508532.1:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1158G>A
  hgvsp: ENST00000328560.8:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1110G>A
  hgvsp: ENST00000505330.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.375G>A
  hgvsp: ENST00000515854.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1328G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.993G>A
  hgvsp: ENST00000504381.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1110G>A
  hgvsp: ENST00000504948.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1158G>A
  hgvsp: ENST00000510168.1:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1158G>A
  hgvsp: ENST00000359644.3:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1158G>A
  hgvsp: ENST00000422190.2:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val420Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

3-130686035-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686035
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686035
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1271G>T
  hgvsp: ENSP00000376914.4:p.Gly424Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1169G>T
  hgvsp: ENSP00000352665.3:p.Gly390Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1121G>T
  hgvsp: ENSP00000421326.2:p.Gly374Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.230G>T
  hgvsp: ENSP00000422489.1:p.Gly77Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1121G>T
  hgvsp: ENSP00000422872.1:p.Gly374Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1339G>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1004G>T
  hgvsp: ENSP00000425320.1:p.Gly335Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1169G>T
  hgvsp: ENSP00000427461.1:p.Gly390Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1169G>T
  hgvsp: ENSP00000424783.1:p.Gly390Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1121G>T
  hgvsp: ENSP00000423330.1:p.Gly374Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1154G>T
  hgvsp: ENSP00000432956.2:p.Gly385Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1169G>T
  hgvsp: ENSP00000329664.8:p.Gly390Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1030G>T
  hgvsp: ENSP00000425228.1:p.Gly344Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1121G>T
  hgvsp: ENSP00000423774.1:p.Gly374Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.386G>T
  hgvsp: ENSP00000422890.1:p.Gly129Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1169G>T
  hgvsp: ENSP00000395809.2:p.Gly390Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1169G>T
  hgvsp: ENSP00000402677.2:p.Gly390Val
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly424Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

3-130686036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686036
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686036
    reference: chr 3
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1170T>C
  hgvsp: ENST00000359644.3:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1155T>C
  hgvsp: ENST00000533801.2:c.1155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1272T>C
  hgvsp: ENST00000393221.4:c.1272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.231T>C
  hgvsp: ENST00000504571.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1122T>C
  hgvsp: ENST00000505330.1:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1170T>C
  hgvsp: ENST00000328560.8:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1340T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1170T>C
  hgvsp: ENST00000510168.1:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1170T>C
  hgvsp: ENST00000508532.1:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1170T>C
  hgvsp: ENST00000428331.2:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1031T>C
  hgvsp: ENST00000504612.1:c.1031T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422890
  ensembl transcript: ENST00000515854
  gene symbol: ATP2C1
  hgvsc: ENST00000515854.1:c.387T>C
  hgvsp: ENST00000515854.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1122T>C
  hgvsp: ENST00000504948.1:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1122T>C
  hgvsp: ENST00000507488.2:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1170T>C
  hgvsp: ENST00000422190.2:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1005T>C
  hgvsp: ENST00000504381.1:c.1005T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1122T>C
  hgvsp: ENST00000513801.1:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly424Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-130686050-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686050
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686050
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1184G>C
  hgvsp: ENSP00000427461.1:p.Gly395Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1045G>C
  hgvsp: ENSP00000425228.1:p.Gly349Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1184G>C
  hgvsp: ENSP00000352665.3:p.Gly395Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1184G>C
  hgvsp: ENSP00000329664.8:p.Gly395Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1169G>C
  hgvsp: ENSP00000432956.2:p.Gly390Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.245G>C
  hgvsp: ENSP00000422489.1:p.Gly82Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1019G>C
  hgvsp: ENSP00000425320.1:p.Gly340Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1136G>C
  hgvsp: ENSP00000422872.1:p.Gly379Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1184G>C
  hgvsp: ENSP00000424783.1:p.Gly395Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1136G>C
  hgvsp: ENSP00000423330.1:p.Gly379Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1286G>C
  hgvsp: ENSP00000376914.4:p.Gly429Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1136G>C
  hgvsp: ENSP00000423774.1:p.Gly379Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1184G>C
  hgvsp: ENSP00000395809.2:p.Gly395Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1354G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1136G>C
  hgvsp: ENSP00000421326.2:p.Gly379Ala
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1184G>C
  hgvsp: ENSP00000402677.2:p.Gly395Ala
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly429Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-130686053-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686053
    reference: chr 3
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1187T>G
  hgvsp: ENSP00000352665.3:p.Phe396Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1172T>G
  hgvsp: ENSP00000432956.2:p.Phe391Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1139T>G
  hgvsp: ENSP00000421326.2:p.Phe380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.248T>G
  hgvsp: ENSP00000422489.1:p.Phe83Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1187T>G
  hgvsp: ENSP00000329664.8:p.Phe396Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1289T>G
  hgvsp: ENSP00000376914.4:p.Phe430Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1139T>G
  hgvsp: ENSP00000423330.1:p.Phe380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1187T>G
  hgvsp: ENSP00000402677.2:p.Phe396Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1187T>G
  hgvsp: ENSP00000424783.1:p.Phe396Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1139T>G
  hgvsp: ENSP00000422872.1:p.Phe380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1139T>G
  hgvsp: ENSP00000423774.1:p.Phe380Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1022T>G
  hgvsp: ENSP00000425320.1:p.Phe341Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1187T>G
  hgvsp: ENSP00000427461.1:p.Phe396Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1048T>G
  hgvsp: ENSP00000425228.1:p.Phe350Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1187T>G
  hgvsp: ENSP00000395809.2:p.Phe396Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1357T>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe430Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-130686056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686056
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686056
    reference: chr 3
allele count: 7
allele frequency: 5.766442599182813e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1142A>G
  hgvsp: ENSP00000423774.1:p.Tyr381Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1190A>G
  hgvsp: ENSP00000329664.8:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.251A>G
  hgvsp: ENSP00000422489.1:p.Tyr84Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1175A>G
  hgvsp: ENSP00000432956.2:p.Tyr392Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1025A>G
  hgvsp: ENSP00000425320.1:p.Tyr342Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1051A>G
  hgvsp: ENSP00000425228.1:p.Tyr351Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1190A>G
  hgvsp: ENSP00000402677.2:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1142A>G
  hgvsp: ENSP00000421326.2:p.Tyr381Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1190A>G
  hgvsp: ENSP00000352665.3:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1190A>G
  hgvsp: ENSP00000427461.1:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1142A>G
  hgvsp: ENSP00000423330.1:p.Tyr381Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1190A>G
  hgvsp: ENSP00000424783.1:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1142A>G
  hgvsp: ENSP00000422872.1:p.Tyr381Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1292A>G
  hgvsp: ENSP00000376914.4:p.Tyr431Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1190A>G
  hgvsp: ENSP00000395809.2:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1360A>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr431Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-130686065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686065
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1369C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1151C>T
  hgvsp: ENSP00000423330.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1199C>T
  hgvsp: ENSP00000352665.3:p.Ala400Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1034C>T
  hgvsp: ENSP00000425320.1:p.Ala345Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1199C>T
  hgvsp: ENSP00000424783.1:p.Ala400Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1199C>T
  hgvsp: ENSP00000402677.2:p.Ala400Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1151C>T
  hgvsp: ENSP00000423774.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1184C>T
  hgvsp: ENSP00000432956.2:p.Ala395Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1151C>T
  hgvsp: ENSP00000421326.2:p.Ala384Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1199C>T
  hgvsp: ENSP00000427461.1:p.Ala400Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1199C>T
  hgvsp: ENSP00000395809.2:p.Ala400Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.260C>T
  hgvsp: ENSP00000422489.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1301C>T
  hgvsp: ENSP00000376914.4:p.Ala434Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1060C>T
  hgvsp: ENSP00000425228.1:p.Ala354Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1199C>T
  hgvsp: ENSP00000329664.8:p.Ala400Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1151C>T
  hgvsp: ENSP00000422872.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala434Val
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: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-130686073-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686073
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1207A>G
  hgvsp: ENSP00000424783.1:p.Arg403Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1042A>G
  hgvsp: ENSP00000425320.1:p.Arg348Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1207A>G
  hgvsp: ENSP00000329664.8:p.Arg403Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1159A>G
  hgvsp: ENSP00000422872.1:p.Arg387Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1207A>G
  hgvsp: ENSP00000427461.1:p.Arg403Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1159A>G
  hgvsp: ENSP00000423330.1:p.Arg387Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1159A>G
  hgvsp: ENSP00000423774.1:p.Arg387Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1159A>G
  hgvsp: ENSP00000421326.2:p.Arg387Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.268A>G
  hgvsp: ENSP00000422489.1:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1192A>G
  hgvsp: ENSP00000432956.2:p.Arg398Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1207A>G
  hgvsp: ENSP00000402677.2:p.Arg403Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1207A>G
  hgvsp: ENSP00000352665.3:p.Arg403Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1309A>G
  hgvsp: ENSP00000376914.4:p.Arg437Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1068A>G
  hgvsp: ENSP00000425228.1:p.Arg357Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1207A>G
  hgvsp: ENSP00000395809.2:p.Arg403Gly
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1377A>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg437Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

3-130686091-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686092
    reference: chr 3
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+16dupT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+16dupT
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-130686091-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686090
    reference: chr 3
allele count: 6
allele frequency: 4.947147969195758e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+16delT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+16delT
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: AT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

3-130686091-ATTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686088
    reference: chr 3
allele count: 6
allele frequency: 4.947147969195758e-5
allele num: 121282
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11695
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8622
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16504
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 6
  allele frequency: 5.191209551825575e-4
  allele num: 11558
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: ATTT
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-130686091-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686091
    reference: chr 3
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+7A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+7A>T
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.1320+7A>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-130686100-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686100
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686100
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+16T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+16T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

3-130686105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686105
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686105
    reference: chr 3
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+21G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+21G>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

3-130686107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686107
    reference: chr 3
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+23T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+23T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

3-130686108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686108
    reference: chr 3
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+24G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+24G>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-130686113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686113
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686113
    reference: chr 3
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1218+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1218+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1218+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1203+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1170+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.279+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1170+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1218+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1053+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1170+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1079+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1388+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1218+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1320+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1170+29C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1218+29C>T
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-130686130-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686130
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686131
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-42dupA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-42dupA
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-130686131-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686131
    reference: chr 3
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-43A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-43A>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-130686134-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686134
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686135
    reference: chr 3
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-40_1171-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-40_1219-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-40_1204-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-40_1171-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-40_1054-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-40_1389-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-40_1321-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-40_1219-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-40_1080-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-40_280-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-40_1171-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-40_1219-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-40_1219-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-40_1219-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-40_1219-39insT
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-40_1171-39insT
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-130686136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686136
    reference: chr 3
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-38A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-38A>G
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/3-130686136-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686136
    reference: chr 3
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-38A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-38A>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-130686137-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686137
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686139
    reference: chr 3
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-36_1054-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-36_1389-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-36_1171-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-36_1219-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-36_1171-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-36_1219-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-36_1171-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-36_1080-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-36_1171-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-36_1219-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-36_280-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-36_1321-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-36_1219-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-36_1204-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-36_1219-35insAA
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-36_1219-35insAA
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-130686139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686139
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686139
    reference: chr 3
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-35G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-35G>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-130686141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686141
    reference: chr 3
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-33G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-33G>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-130686142-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686142
    reference: chr 3
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-32A>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-32A>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-130686143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686143
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686143
    reference: chr 3
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-31T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-31T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

3-130686153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686153
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-21G>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-21G>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-130686156-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686156
    reference: chr 3
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-18T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-18T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

3-130686160-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686160
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686160
    reference: chr 3
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-14T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-14T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-130686162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686162
    reference: chr 3
allele count: 3
allele frequency: 2.474226804123711e-5
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-12T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-12T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-130686168-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686168
    reference: chr 3
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1171-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1219-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1219-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1171-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1171-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1219-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1219-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.280-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1219-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1321-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1219-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1204-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1054-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1171-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1389-6T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1080-6T>C
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1321-6T>C
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-130686175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686175
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686175
    reference: chr 3
allele count: 3
allele frequency: 2.474471700291988e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1220C>T
  hgvsp: ENSP00000329664.8:p.Ala407Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1220C>T
  hgvsp: ENSP00000427461.1:p.Ala407Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1220C>T
  hgvsp: ENSP00000395809.2:p.Ala407Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1220C>T
  hgvsp: ENSP00000352665.3:p.Ala407Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1172C>T
  hgvsp: ENSP00000422872.1:p.Ala391Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1205C>T
  hgvsp: ENSP00000432956.2:p.Ala402Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1172C>T
  hgvsp: ENSP00000423330.1:p.Ala391Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.281C>T
  hgvsp: ENSP00000422489.1:p.Ala94Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1390C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1220C>T
  hgvsp: ENSP00000402677.2:p.Ala407Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1172C>T
  hgvsp: ENSP00000423774.1:p.Ala391Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1220C>T
  hgvsp: ENSP00000424783.1:p.Ala407Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1172C>T
  hgvsp: ENSP00000421326.2:p.Ala391Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1322C>T
  hgvsp: ENSP00000376914.4:p.Ala441Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1055C>T
  hgvsp: ENSP00000425320.1:p.Ala352Val
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1081C>T
  hgvsp: ENSP00000425228.1:p.Ala361Val
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala441Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-130686195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686195
    reference: chr 3
allele count: 3
allele frequency: 2.473655568198684e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1240G>A
  hgvsp: ENSP00000424783.1:p.Ala414Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1240G>A
  hgvsp: ENSP00000329664.8:p.Ala414Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1192G>A
  hgvsp: ENSP00000423774.1:p.Ala398Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1192G>A
  hgvsp: ENSP00000423330.1:p.Ala398Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1240G>A
  hgvsp: ENSP00000402677.2:p.Ala414Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1101G>A
  hgvsp: ENSP00000425228.1:p.Ala368Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1225G>A
  hgvsp: ENSP00000432956.2:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.301G>A
  hgvsp: ENSP00000422489.1:p.Ala101Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1240G>A
  hgvsp: ENSP00000395809.2:p.Ala414Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1240G>A
  hgvsp: ENSP00000427461.1:p.Ala414Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1342G>A
  hgvsp: ENSP00000376914.4:p.Ala448Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1240G>A
  hgvsp: ENSP00000352665.3:p.Ala414Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1192G>A
  hgvsp: ENSP00000421326.2:p.Ala398Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1192G>A
  hgvsp: ENSP00000422872.1:p.Ala398Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1075G>A
  hgvsp: ENSP00000425320.1:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1410G>A
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala448Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

3-130686197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686197
    reference: chr 3
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1194T>C
  hgvsp: ENST00000505330.1:c.1194T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1242T>C
  hgvsp: ENST00000508532.1:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1242T>C
  hgvsp: ENST00000422190.2:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.303T>C
  hgvsp: ENST00000504571.1:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1412T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1194T>C
  hgvsp: ENST00000504948.1:c.1194T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1227T>C
  hgvsp: ENST00000533801.2:c.1227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1242T>C
  hgvsp: ENST00000359644.3:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1242T>C
  hgvsp: ENST00000510168.1:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1077T>C
  hgvsp: ENST00000504381.1:c.1077T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1194T>C
  hgvsp: ENST00000507488.2:c.1194T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1103T>C
  hgvsp: ENST00000504612.1:c.1103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1344T>C
  hgvsp: ENST00000393221.4:c.1344T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1194T>C
  hgvsp: ENST00000513801.1:c.1194T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1242T>C
  hgvsp: ENST00000328560.8:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1242T>C
  hgvsp: ENST00000428331.2:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala448Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-130686209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686209
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686209
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1089C>T
  hgvsp: ENST00000504381.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1254C>T
  hgvsp: ENST00000328560.8:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1206C>T
  hgvsp: ENST00000507488.2:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1206C>T
  hgvsp: ENST00000513801.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1254C>T
  hgvsp: ENST00000359644.3:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1254C>T
  hgvsp: ENST00000510168.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1254C>T
  hgvsp: ENST00000428331.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1115C>T
  hgvsp: ENST00000504612.1:c.1115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1254C>T
  hgvsp: ENST00000508532.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.315C>T
  hgvsp: ENST00000504571.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1239C>T
  hgvsp: ENST00000533801.2:c.1239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1206C>T
  hgvsp: ENST00000505330.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1356C>T
  hgvsp: ENST00000393221.4:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1254C>T
  hgvsp: ENST00000422190.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1424C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1206C>T
  hgvsp: ENST00000504948.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn452Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-130686211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686211
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686211
    reference: chr 3
allele count: 3
allele frequency: 2.474226804123711e-5
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1256A>G
  hgvsp: ENSP00000402677.2:p.Asn419Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1256A>G
  hgvsp: ENSP00000352665.3:p.Asn419Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1091A>G
  hgvsp: ENSP00000425320.1:p.Asn364Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1208A>G
  hgvsp: ENSP00000423330.1:p.Asn403Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1256A>G
  hgvsp: ENSP00000329664.8:p.Asn419Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1358A>G
  hgvsp: ENSP00000376914.4:p.Asn453Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1256A>G
  hgvsp: ENSP00000395809.2:p.Asn419Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1208A>G
  hgvsp: ENSP00000423774.1:p.Asn403Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1256A>G
  hgvsp: ENSP00000424783.1:p.Asn419Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1241A>G
  hgvsp: ENSP00000432956.2:p.Asn414Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1256A>G
  hgvsp: ENSP00000427461.1:p.Asn419Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1117A>G
  hgvsp: ENSP00000425228.1:p.Asn373Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1208A>G
  hgvsp: ENSP00000421326.2:p.Asn403Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1426A>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.317A>G
  hgvsp: ENSP00000422489.1:p.Asn106Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1208A>G
  hgvsp: ENSP00000422872.1:p.Asn403Ser
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn453Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-130686211-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686211
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686211
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1358A>T
  hgvsp: ENSP00000376914.4:p.Asn453Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1256A>T
  hgvsp: ENSP00000352665.3:p.Asn419Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1241A>T
  hgvsp: ENSP00000432956.2:p.Asn414Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1256A>T
  hgvsp: ENSP00000424783.1:p.Asn419Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1256A>T
  hgvsp: ENSP00000402677.2:p.Asn419Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1256A>T
  hgvsp: ENSP00000427461.1:p.Asn419Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1208A>T
  hgvsp: ENSP00000423774.1:p.Asn403Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1208A>T
  hgvsp: ENSP00000422872.1:p.Asn403Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1208A>T
  hgvsp: ENSP00000423330.1:p.Asn403Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1091A>T
  hgvsp: ENSP00000425320.1:p.Asn364Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1426A>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1117A>T
  hgvsp: ENSP00000425228.1:p.Asn373Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.317A>T
  hgvsp: ENSP00000422489.1:p.Asn106Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1256A>T
  hgvsp: ENSP00000395809.2:p.Asn419Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1256A>T
  hgvsp: ENSP00000329664.8:p.Asn419Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1208A>T
  hgvsp: ENSP00000421326.2:p.Asn403Ile
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn453Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-130686214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686214
    reference: chr 3
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1259C>T
  hgvsp: ENSP00000427461.1:p.Thr420Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1259C>T
  hgvsp: ENSP00000352665.3:p.Thr420Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1211C>T
  hgvsp: ENSP00000423330.1:p.Thr404Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1259C>T
  hgvsp: ENSP00000424783.1:p.Thr420Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1244C>T
  hgvsp: ENSP00000432956.2:p.Thr415Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1361C>T
  hgvsp: ENSP00000376914.4:p.Thr454Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1259C>T
  hgvsp: ENSP00000402677.2:p.Thr420Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1094C>T
  hgvsp: ENSP00000425320.1:p.Thr365Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1211C>T
  hgvsp: ENSP00000422872.1:p.Thr404Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1259C>T
  hgvsp: ENSP00000329664.8:p.Thr420Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1429C>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1211C>T
  hgvsp: ENSP00000421326.2:p.Thr404Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1120C>T
  hgvsp: ENSP00000425228.1:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.320C>T
  hgvsp: ENSP00000422489.1:p.Thr107Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1211C>T
  hgvsp: ENSP00000423774.1:p.Thr404Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1259C>T
  hgvsp: ENSP00000395809.2:p.Thr420Ile
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr454Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-130686219-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686219
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686219
    reference: chr 3
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1216A>T
  hgvsp: ENSP00000421326.2:p.Met406Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1264A>T
  hgvsp: ENSP00000329664.8:p.Met422Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.325A>T
  hgvsp: ENSP00000422489.1:p.Met109Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1216A>T
  hgvsp: ENSP00000423774.1:p.Met406Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1366A>T
  hgvsp: ENSP00000376914.4:p.Met456Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1264A>T
  hgvsp: ENSP00000424783.1:p.Met422Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1264A>T
  hgvsp: ENSP00000395809.2:p.Met422Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1099A>T
  hgvsp: ENSP00000425320.1:p.Met367Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1264A>T
  hgvsp: ENSP00000352665.3:p.Met422Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1216A>T
  hgvsp: ENSP00000423330.1:p.Met406Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1125A>T
  hgvsp: ENSP00000425228.1:p.Met376Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1249A>T
  hgvsp: ENSP00000432956.2:p.Met417Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1264A>T
  hgvsp: ENSP00000427461.1:p.Met422Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1264A>T
  hgvsp: ENSP00000402677.2:p.Met422Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1216A>T
  hgvsp: ENSP00000422872.1:p.Met406Leu
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1434A>T
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met456Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-130686221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686221
    reference: chr 3
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1266G>A
  hgvsp: ENSP00000402677.2:p.Met422Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1218G>A
  hgvsp: ENSP00000421326.2:p.Met406Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1218G>A
  hgvsp: ENSP00000423774.1:p.Met406Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1436G>A
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1266G>A
  hgvsp: ENSP00000424783.1:p.Met422Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1218G>A
  hgvsp: ENSP00000423330.1:p.Met406Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.327G>A
  hgvsp: ENSP00000422489.1:p.Met109Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1266G>A
  hgvsp: ENSP00000352665.3:p.Met422Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1266G>A
  hgvsp: ENSP00000395809.2:p.Met422Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1127G>A
  hgvsp: ENSP00000425228.1:p.Met376Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1218G>A
  hgvsp: ENSP00000422872.1:p.Met406Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1266G>A
  hgvsp: ENSP00000427461.1:p.Met422Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1101G>A
  hgvsp: ENSP00000425320.1:p.Met367Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1266G>A
  hgvsp: ENSP00000329664.8:p.Met422Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1368G>A
  hgvsp: ENSP00000376914.4:p.Met456Ile
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1251G>A
  hgvsp: ENSP00000432956.2:p.Met417Ile
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met456Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-130686240-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686240
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686240
    reference: chr 3
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424930
  ensembl transcript: ENST00000508660
  gene symbol: ATP2C1
  hgvsc: ENST00000508660.1:c.9G>T
  hgvsp: ENSP00000424930.1:p.Ala4Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1237G>T
  hgvsp: ENSP00000423774.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1387G>T
  hgvsp: ENSP00000376914.4:p.Ala463Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1237G>T
  hgvsp: ENSP00000422872.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1285G>T
  hgvsp: ENSP00000352665.3:p.Ala429Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1237G>T
  hgvsp: ENSP00000423330.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1285G>T
  hgvsp: ENSP00000427461.1:p.Ala429Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1146G>T
  hgvsp: ENSP00000425228.1:p.Ala383Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1285G>T
  hgvsp: ENSP00000424783.1:p.Ala429Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1237G>T
  hgvsp: ENSP00000421326.2:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1285G>T
  hgvsp: ENSP00000402677.2:p.Ala429Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.346G>T
  hgvsp: ENSP00000422489.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1285G>T
  hgvsp: ENSP00000329664.8:p.Ala429Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1455G>T
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1120G>T
  hgvsp: ENSP00000425320.1:p.Ala374Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1285G>T
  hgvsp: ENSP00000395809.2:p.Ala429Ser
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1270G>T
  hgvsp: ENSP00000432956.2:p.Ala424Ser
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala463Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-130686248-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686248
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686248
    reference: chr 3
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1293T>G
  hgvsp: ENSP00000427461.1:p.Ile431Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1293T>G
  hgvsp: ENSP00000424783.1:p.Ile431Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424930
  ensembl transcript: ENST00000508660
  gene symbol: ATP2C1
  hgvsc: ENST00000508660.1:c.17T>G
  hgvsp: ENSP00000424930.1:p.Ile6Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000402677
  ensembl transcript: ENST00000422190
  gene symbol: ATP2C1
  hgvsc: ENST00000422190.2:c.1293T>G
  hgvsp: ENSP00000402677.2:p.Ile431Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1463T>G
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1293T>G
  hgvsp: ENSP00000329664.8:p.Ile431Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422872
  ensembl transcript: ENST00000513801
  gene symbol: ATP2C1
  hgvsc: ENST00000513801.1:c.1245T>G
  hgvsp: ENSP00000422872.1:p.Ile415Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423330
  ensembl transcript: ENST00000504948
  gene symbol: ATP2C1
  hgvsc: ENST00000504948.1:c.1245T>G
  hgvsp: ENSP00000423330.1:p.Ile415Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1293T>G
  hgvsp: ENSP00000352665.3:p.Ile431Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1293T>G
  hgvsp: ENSP00000395809.2:p.Ile431Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425320
  ensembl transcript: ENST00000504381
  gene symbol: ATP2C1
  hgvsc: ENST00000504381.1:c.1128T>G
  hgvsp: ENSP00000425320.1:p.Ile376Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.354T>G
  hgvsp: ENSP00000422489.1:p.Ile118Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000421326
  ensembl transcript: ENST00000507488
  gene symbol: ATP2C1
  hgvsc: ENST00000507488.2:c.1245T>G
  hgvsp: ENSP00000421326.2:p.Ile415Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000425228
  ensembl transcript: ENST00000504612
  gene symbol: ATP2C1
  hgvsc: ENST00000504612.1:c.1154T>G
  hgvsp: ENSP00000425228.1:p.Ile385Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000423774
  ensembl transcript: ENST00000505330
  gene symbol: ATP2C1
  hgvsc: ENST00000505330.1:c.1245T>G
  hgvsp: ENSP00000423774.1:p.Ile415Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000432956
  ensembl transcript: ENST00000533801
  gene symbol: ATP2C1
  hgvsc: ENST00000533801.2:c.1278T>G
  hgvsp: ENSP00000432956.2:p.Ile426Met
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000376914
  ensembl transcript: ENST00000393221
  gene symbol: ATP2C1
  hgvsc: ENST00000393221.4:c.1395T>G
  hgvsp: ENSP00000376914.4:p.Ile465Met
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile465Met
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-130686251-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130686251
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130686251
    reference: chr 3
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000422489
  ensembl transcript: ENST00000504571
  gene symbol: ATP2C1
  hgvsc: ENST00000504571.1:c.357T>C
  hgvsp: ENST00000504571.1:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424930
  ensembl transcript: ENST00000508660
  gene symbol: ATP2C1
  hgvsc: ENST00000508660.1:c.20T>C
  hgvsp: ENST00000508660.1:c.20T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000017260
  ensembl transcript: ENST00000514654
  gene symbol: ATP2C1
  hgvsc: ENST00000514654.1:n.1466T>C
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000352665
  ensembl transcript: ENST00000359644
  gene symbol: ATP2C1
  hgvsc: ENST00000359644.3:c.1296T>C
  hgvsp: ENST00000359644.3:c.1296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000329664
  ensembl transcript: ENST00000328560
  gene symbol: ATP2C1
  hgvsc: ENST00000328560.8:c.1296T>C
  hgvsp: ENST00000328560.8:c.1296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000395809
  ensembl transcript: ENST00000428331
  gene symbol: ATP2C1
  hgvsc: ENST00000428331.2:c.1296T>C
  hgvsp: ENST00000428331.2:c.1296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000424783
  ensembl transcript: ENST00000508532
  gene symbol: ATP2C1
  hgvsc: ENST00000508532.1:c.1296T>C
  hgvsp: ENST00000508532.1:c.1296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000017260
  ensembl protein: ENSP00000427461
  ensembl transcript: ENST00000510168
  gene symbol: ATP2C1
  hgvsc: ENST00000510168.1:c.1296T>C
  hgvsp: ENST00000510168.1:c.1296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13211
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Ala466Ala
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 5098
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1948
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14397
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1457
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13070
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1155
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1831
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.967342120794806e-4
allele num: 10166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.596339e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 8270
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1943
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13464
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12949
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1650
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5528
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17477
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561231499406732e-5
allele num: 64052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.622e0

FS
type: SiteQuality
SIO_000300: 1.1204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.423e0

DP
type: SiteQuality
SIO_000300: 1.575337e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

MQ
type: SiteQuality
SIO_000300: 3.55e1

QD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeDepth
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1154
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5528
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122462998813464e-5
allele num: 64052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1204e1

DP
type: SiteQuality
SIO_000300: 1.575337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

VQSLOD
type: SiteQuality
SIO_000300: -2.622e0

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 3.55e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.423e0

GenotypeDepth
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8270
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11816
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5528
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 962
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122462998813464e-5
allele num: 64052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.575337e6

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

FS
type: SiteQuality
SIO_000300: 1.1204e1

VQSLOD
type: SiteQuality
SIO_000300: -2.622e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

MQ
type: SiteQuality
SIO_000300: 3.55e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.423e0

GenotypeDepth
all individuals: 13770
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10513
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1155
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.994e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.891e0

DP
type: SiteQuality
SIO_000300: 1.559297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

FS
type: SiteQuality
SIO_000300: 5.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

QD
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 3.363e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.578033769922677e-5
allele num: 63370
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
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DP
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SIO_000300: 1.553911e6

VQSLOD
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SIO_000300: -3.309e-1

BaseQRankSum
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SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.222e0

ReadPosRankSum
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SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 2.722e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.582879574521971e-5
allele num: 63176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.264e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.804e1

ClippingRankSum
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SIO_000300: -2.007e0

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

DP
type: SiteQuality
SIO_000300: 1.545991e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62678
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.300728407908429e-4
allele num: 7688
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
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SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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QD
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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MQRankSum
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SIO_000300: 2.04e0

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

QD
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SIO_000300: 1.561e1

ClippingRankSum
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MQRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 2.172818e6

BaseQRankSum
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SIO_000300: 3.24e0

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

MQ
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SIO_000300: 6.0e1

FS
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SIO_000300: 1.0025e1

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 2.173343e6

ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 9.720000000000001e0

VQSLOD
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SIO_000300: -7.824e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -3.67e-1

FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 1.27e1

VQSLOD
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SIO_000300: 1.16e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

DP
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SIO_000300: 2.175216e6

VQSLOD
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SIO_000300: 1.13e0

BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 4.82e-1

MQ
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SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 2.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

East Asian
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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SIO_000300: 2.175094e6

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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African
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East Asian
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66730
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Other
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East Asian
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South Asian
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European (Finnish)
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African
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Latino
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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DP
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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Other
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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FS
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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MQRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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MQRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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QD
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FS
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VQSLOD
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DP
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MQ
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66678
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Other
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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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ClippingRankSum
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DP
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FS
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 3.9228e1

QD
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SIO_000300: 3.8e0

MQRankSum
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SIO_000300: -1.093e0

ReadPosRankSum
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SIO_000300: -1.665e0

DP
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SIO_000300: 2.155169e6

BaseQRankSum
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SIO_000300: 1.65e0

MQ
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SIO_000300: 3.927e1

VQSLOD
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SIO_000300: -3.45e0

ClippingRankSum
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SIO_000300: 1.67e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
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SIO_000300: 2.155152e6

FS
type: SiteQuality
SIO_000300: 1.4886e1

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
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SIO_000300: 5.36e-1

MQ
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SIO_000300: 5.956e1

VQSLOD
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SIO_000300: -1.856e0

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

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

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

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

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

Latino
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allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 2.155152e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.4886e1

VQSLOD
type: SiteQuality
SIO_000300: -1.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
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ReadPosRankSum
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SIO_000300: -2.068e0

MQRankSum
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FS
type: SiteQuality
SIO_000300: 6.922799999999999e1

InbreedingCoeff
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SIO_000300: 2.0e-3

MQ
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SIO_000300: 3.669e1

ClippingRankSum
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SIO_000300: -3.73e-1

QD
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BaseQRankSum
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SIO_000300: -1.296e0

DP
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SIO_000300: 2.154887e6

VQSLOD
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SIO_000300: -7.275e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 8612
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: -1.03e-1

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

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele frequency: 1.499655079331754e-5
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

African
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allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
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ClippingRankSum
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FS
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SIO_000300: 2.061e0

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

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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African
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South Asian
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MQRankSum
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MQ
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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South Asian
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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South Asian
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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MQRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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European (Finnish)
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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African
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Latino
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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DP
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MQ
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InbreedingCoeff
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FS
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DP
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MQ
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VQSLOD
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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QD
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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MQ
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South Asian
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European (Finnish)
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DP
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FS
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VQSLOD
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DP
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all individuals: 4518
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 860
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23368
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1021
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28123
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11636
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2935
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.63e-2

FS
type: SiteQuality
SIO_000300: 1.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 2.145502e6