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nstd195 (Mwapagha et al. 2021)

Organism:
Human
Study Type:
Collection
Submitter:
Lamech Mwapagha
Description:
Whole-genome sequencing (WGS) was performed on DNA isolated from tumour biopsies with a histologically confirmed diagnosis of OSSC. Paired-end sequencing was performed on the Illumina HiSeq2000, with 300 bp reads. Reads were aligned to the Homo sapiens reference genome (GRCh37) using ELAND and CASAVA software. Structural variants reported from the alignment were collated with gene loci, using the variant effect predictor of ENSEMBL. The affected genes were subsequently cross-checked against the genetic association database for disease and cancer associations. See Variant Summary counts for nstd195 in dbVar Variant Summary.
Publication(s):
Mwapagha et al. 2021

Detailed Information: Download 14750 Variant Regions, Download 19508 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p13 (hg38)
Submitted: GRCh37 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr11,1901,581RemappedNC_000001.11
NC_000002.12Chr21,0191,357RemappedNC_000002.12
NC_000003.12Chr39631,258RemappedNC_000003.12
NC_000004.12Chr41,1001,486RemappedNC_000004.12
NC_000005.10Chr5583876RemappedNC_000005.10
NC_000006.12Chr66651,014RemappedNC_000006.12
NC_000007.14Chr71,3461,664RemappedNC_000007.14
NC_000008.11Chr8677947RemappedNC_000008.11
NC_000009.12Chr9720956RemappedNC_000009.12
NC_000010.11Chr108811,136RemappedNC_000010.11
NC_000011.10Chr11572763RemappedNC_000011.10
NC_000012.12Chr12742915RemappedNC_000012.12
NC_000013.11Chr13381527RemappedNC_000013.11
NC_000014.9Chr14340435RemappedNC_000014.9
NC_000015.10Chr15407509RemappedNC_000015.10
NC_000016.10Chr16755889RemappedNC_000016.10
NC_000017.11Chr17407537RemappedNC_000017.11
NC_000018.10Chr18281416RemappedNC_000018.10
NC_000019.10Chr19474560RemappedNC_000019.10
NC_000020.11Chr20467584RemappedNC_000020.11
NC_000021.9Chr21491550RemappedNC_000021.9
NC_000022.11Chr22405486RemappedNC_000022.11
NC_000023.11ChrX466593RemappedNC_000023.11
NC_000024.10ChrY190191RemappedNC_000024.10
NT_187364.1Chr1|NT_187364.11114RemappedNT_187364.1
NT_187367.1Chr1|NT_187367.112RemappedNT_187367.1
NT_187515.1Chr1|NT_187515.12020RemappedNT_187515.1
NT_187516.1Chr1|NT_187516.122RemappedNT_187516.1
NT_187518.1Chr1|NT_187518.111RemappedNT_187518.1
NT_187520.1Chr1|NT_187520.11313RemappedNT_187520.1
NT_187646.1Chr1|NT_187646.111RemappedNT_187646.1
NW_003315905.1Chr1|NW_003315905.111RemappedNW_003315905.1
NW_009646194.1Chr1|NW_009646194.112RemappedNW_009646194.1
NW_011332687.1Chr1|NW_011332687.111RemappedNW_011332687.1
NW_011332688.1Chr1|NW_011332688.137RemappedNW_011332688.1
NW_012132914.1Chr1|NW_012132914.122RemappedNW_012132914.1
NW_014040925.1Chr1|NW_014040925.111RemappedNW_014040925.1
NW_014040927.1Chr1|NW_014040927.122RemappedNW_014040927.1
NW_017852928.1Chr1|NW_017852928.123RemappedNW_017852928.1
NW_018654707.1Chr1|NW_018654707.147RemappedNW_018654707.1
NW_018654708.1Chr1|NW_018654708.113RemappedNW_018654708.1
NT_187523.1Chr2|NT_187523.111RemappedNT_187523.1
NT_187524.1Chr2|NT_187524.11518RemappedNT_187524.1
NT_187525.1Chr2|NT_187525.133RemappedNT_187525.1
NT_187526.1Chr2|NT_187526.147RemappedNT_187526.1
NT_187528.1Chr2|NT_187528.122RemappedNT_187528.1
NT_187529.1Chr2|NT_187529.12831RemappedNT_187529.1
NT_187647.1Chr2|NT_187647.111RemappedNT_187647.1
NT_187648.1Chr2|NT_187648.11418RemappedNT_187648.1
NW_011332689.1Chr2|NW_011332689.122RemappedNW_011332689.1
NW_012132915.1Chr2|NW_012132915.13336RemappedNW_012132915.1
NW_015495299.1Chr2|NW_015495299.122RemappedNW_015495299.1
NW_018654710.1Chr2|NW_018654710.127RemappedNW_018654710.1
NT_187678.1Chr3|NT_187678.11617RemappedNT_187678.1
NT_187688.1Chr3|NT_187688.11617RemappedNT_187688.1
NT_187689.1Chr3|NT_187689.11820RemappedNT_187689.1
NT_187690.1Chr3|NT_187690.11617RemappedNT_187690.1
NT_187691.1Chr3|NT_187691.11617RemappedNT_187691.1
NT_187532.1Chr3|NT_187532.11011RemappedNT_187532.1
NT_187534.1Chr3|NT_187534.111RemappedNT_187534.1
NT_187537.1Chr3|NT_187537.113RemappedNT_187537.1
NT_187538.1Chr3|NT_187538.123RemappedNT_187538.1
NT_187539.1Chr3|NT_187539.177RemappedNT_187539.1
NT_187649.1Chr3|NT_187649.11617RemappedNT_187649.1
NW_003871060.2Chr3|NW_003871060.211RemappedNW_003871060.2
NW_009646197.1Chr3|NW_009646197.122RemappedNW_009646197.1
NW_011332691.1Chr3|NW_011332691.111RemappedNW_011332691.1
NW_012132916.1Chr3|NW_012132916.111RemappedNW_012132916.1
NW_019805491.1Chr3|NW_019805491.122RemappedNW_019805491.1
NT_187679.1Chr4|NT_187679.14159RemappedNT_187679.1
NT_187543.1Chr4|NT_187543.13448RemappedNT_187543.1
NT_187545.1Chr4|NT_187545.167RemappedNT_187545.1
NT_187650.1Chr4|NT_187650.17593RemappedNT_187650.1
NW_003315915.1Chr4|NW_003315915.112RemappedNW_003315915.1
NT_187546.1Chr5|NT_187546.122RemappedNT_187546.1
NT_187547.1Chr5|NT_187547.155RemappedNT_187547.1
NT_187548.1Chr5|NT_187548.11719RemappedNT_187548.1
NT_187549.1Chr5|NT_187549.113RemappedNT_187549.1
NT_187651.1Chr5|NT_187651.11415RemappedNT_187651.1
NT_187652.1Chr5|NT_187652.122RemappedNT_187652.1
NW_003315917.2Chr5|NW_003315917.277RemappedNW_003315917.2
NW_009646199.1Chr5|NW_009646199.111RemappedNW_009646199.1
NW_016107297.1Chr5|NW_016107297.136RemappedNW_016107297.1
NW_016107298.1Chr5|NW_016107298.133RemappedNW_016107298.1
NT_187692.1Chr6|NT_187692.111RemappedNT_187692.1
NT_187552.1Chr6|NT_187552.122RemappedNT_187552.1
NT_187555.1Chr6|NT_187555.112RemappedNT_187555.1
NW_004166862.2Chr6|NW_004166862.211RemappedNW_004166862.2
NW_012132918.1Chr6|NW_012132918.114RemappedNW_012132918.1
NT_187558.1Chr7|NT_187558.123RemappedNT_187558.1
NT_187559.1Chr7|NT_187559.122RemappedNT_187559.1
NT_187560.1Chr7|NT_187560.11515RemappedNT_187560.1
NT_187563.1Chr7|NT_187563.111RemappedNT_187563.1
NT_187564.1Chr7|NT_187564.112RemappedNT_187564.1
NW_012132919.1Chr7|NW_012132919.123RemappedNW_012132919.1
NW_017852930.1Chr7|NW_017852930.144RemappedNW_017852930.1
NW_018654714.1Chr7|NW_018654714.155RemappedNW_018654714.1
NW_019805493.1Chr7|NW_019805493.177RemappedNW_019805493.1
NT_187680.1Chr8|NT_187680.111RemappedNT_187680.1
NT_187565.1Chr8|NT_187565.122RemappedNT_187565.1
NT_187566.1Chr8|NT_187566.189RemappedNT_187566.1
NT_187568.1Chr8|NT_187568.122RemappedNT_187568.1
NT_187570.1Chr8|NT_187570.11010RemappedNT_187570.1
NT_187571.1Chr8|NT_187571.136RemappedNT_187571.1
NT_187573.1Chr8|NT_187573.144RemappedNT_187573.1
NT_187574.1Chr8|NT_187574.112RemappedNT_187574.1
NT_187654.1Chr8|NT_187654.111RemappedNT_187654.1
NT_187655.1Chr8|NT_187655.166RemappedNT_187655.1
NW_017852932.1Chr8|NW_017852932.111RemappedNW_017852932.1
NW_018654717.1Chr8|NW_018654717.15571RemappedNW_018654717.1
NT_187578.1Chr9|NT_187578.122RemappedNT_187578.1
NW_013171804.1Chr9|NW_013171804.112RemappedNW_013171804.1
NT_187579.1Chr10|NT_187579.14652RemappedNT_187579.1
NW_003315934.1Chr10|NW_003315934.111RemappedNW_003315934.1
NW_003315935.1Chr10|NW_003315935.122RemappedNW_003315935.1
NT_187681.1Chr11|NT_187681.1811RemappedNT_187681.1
NT_187656.1Chr11|NT_187656.155RemappedNT_187656.1
NT_187657.1Chr11|NT_187657.111RemappedNT_187657.1
NT_187581.1Chr11|NT_187581.155RemappedNT_187581.1
NT_187583.1Chr11|NT_187583.112RemappedNT_187583.1
NT_187584.1Chr11|NT_187584.111RemappedNT_187584.1
NT_187586.1Chr11|NT_187586.134RemappedNT_187586.1
NW_003871074.1Chr11|NW_003871074.111RemappedNW_003871074.1
NW_011332695.1Chr11|NW_011332695.112RemappedNW_011332695.1
NW_015148966.1Chr11|NW_015148966.11114RemappedNW_015148966.1
NW_019805497.1Chr11|NW_019805497.124RemappedNW_019805497.1
NT_187658.1Chr12|NT_187658.1610RemappedNT_187658.1
NT_187587.1Chr12|NT_187587.11214RemappedNT_187587.1
NT_187591.1Chr12|NT_187591.111RemappedNT_187591.1
NW_003315938.1Chr12|NW_003315938.111RemappedNW_003315938.1
NW_003315939.2Chr12|NW_003315939.244RemappedNW_003315939.2
NW_003315940.1Chr12|NW_003315940.111RemappedNW_003315940.1
NW_003315941.1Chr12|NW_003315941.111RemappedNW_003315941.1
NW_003571050.1Chr12|NW_003571050.157RemappedNW_003571050.1
NW_011332696.1Chr12|NW_011332696.133RemappedNW_011332696.1
NW_015148967.1Chr12|NW_015148967.124RemappedNW_015148967.1
NW_018654718.1Chr12|NW_018654718.145RemappedNW_018654718.1
NW_018654720.1Chr12|NW_018654720.114RemappedNW_018654720.1
NW_019805499.1Chr12|NW_019805499.114RemappedNW_019805499.1
NT_187592.1Chr13|NT_187592.166RemappedNT_187592.1
NT_187595.1Chr13|NT_187595.112RemappedNT_187595.1
NW_009646205.1Chr13|NW_009646205.133RemappedNW_009646205.1
NW_011332699.1Chr13|NW_011332699.12323RemappedNW_011332699.1
NW_013171811.1Chr13|NW_013171811.111RemappedNW_013171811.1
NT_187601.1Chr14|NT_187601.111RemappedNT_187601.1
NW_018654722.1Chr14|NW_018654722.135RemappedNW_018654722.1
NT_187659.1Chr15|NT_187659.177RemappedNT_187659.1
NT_187660.1Chr15|NT_187660.11217RemappedNT_187660.1
NT_187382.1Chr15|NT_187382.133RemappedNT_187382.1
NT_187602.1Chr15|NT_187602.155RemappedNT_187602.1
NT_187604.1Chr15|NT_187604.122RemappedNT_187604.1
NT_187605.1Chr15|NT_187605.133RemappedNT_187605.1
NT_187606.1Chr15|NT_187606.134RemappedNT_187606.1
NW_003315943.1Chr15|NW_003315943.144RemappedNW_003315943.1
NW_003315944.2Chr15|NW_003315944.211RemappedNW_003315944.2
NW_012132920.1Chr15|NW_012132920.133RemappedNW_012132920.1
NT_187607.1Chr16|NT_187607.158RemappedNT_187607.1
NT_187610.1Chr16|NT_187610.122RemappedNT_187610.1
NW_013171812.1Chr16|NW_013171812.111RemappedNW_013171812.1
NW_013171813.1Chr16|NW_013171813.122RemappedNW_013171813.1
NW_017852933.1Chr16|NW_017852933.134RemappedNW_017852933.1
NT_187662.1Chr17|NT_187662.122RemappedNT_187662.1
NT_187664.1Chr17|NT_187664.133RemappedNT_187664.1
NT_187611.1Chr17|NT_187611.111RemappedNT_187611.1
NT_187612.1Chr17|NT_187612.133RemappedNT_187612.1
NT_187613.1Chr17|NT_187613.177RemappedNT_187613.1
NT_187615.1Chr17|NT_187615.122RemappedNT_187615.1
NW_003315952.3Chr17|NW_003315952.355RemappedNW_003315952.3
NW_003315954.1Chr17|NW_003315954.123RemappedNW_003315954.1
NW_003315955.1Chr17|NW_003315955.113RemappedNW_003315955.1
NW_017363817.1Chr17|NW_017363817.144RemappedNW_017363817.1
NT_187665.1Chr18|NT_187665.111RemappedNT_187665.1
NT_187666.1Chr18|NT_187666.155RemappedNT_187666.1
NT_187618.1Chr18|NT_187618.111RemappedNT_187618.1
NW_003315956.1Chr18|NW_003315956.113RemappedNW_003315956.1
NW_003315959.1Chr18|NW_003315959.112RemappedNW_003315959.1
NW_003315961.1Chr18|NW_003315961.155RemappedNW_003315961.1
NW_013171814.1Chr18|NW_013171814.111RemappedNW_013171814.1
NW_019805503.1Chr18|NW_019805503.114RemappedNW_019805503.1
NW_003571061.2Chr19|NW_003571061.268RemappedNW_003571061.2
NW_003571057.2Chr19|NW_003571057.255RemappedNW_003571057.2
NW_003571058.2Chr19|NW_003571058.255RemappedNW_003571058.2
NW_003571059.2Chr19|NW_003571059.255RemappedNW_003571059.2
NW_003571060.1Chr19|NW_003571060.1910RemappedNW_003571060.1
NW_003571056.2Chr19|NW_003571056.255RemappedNW_003571056.2
NW_003571055.2Chr19|NW_003571055.268RemappedNW_003571055.2
NT_187619.1Chr19|NT_187619.111RemappedNT_187619.1
NT_187620.1Chr19|NT_187620.122RemappedNT_187620.1
NT_187622.1Chr19|NT_187622.144RemappedNT_187622.1
NW_003315962.1Chr19|NW_003315962.178RemappedNW_003315962.1
NW_003315964.2Chr19|NW_003315964.236RemappedNW_003315964.2
NW_003315965.1Chr19|NW_003315965.122RemappedNW_003315965.1
NW_003571054.1Chr19|NW_003571054.11013RemappedNW_003571054.1
NW_014040929.1Chr19|NW_014040929.133RemappedNW_014040929.1
NT_187623.1Chr20|NT_187623.135RemappedNT_187623.1
NT_187624.1Chr20|NT_187624.144RemappedNT_187624.1
NW_003315966.2Chr20|NW_003315966.212RemappedNW_003315966.2
NT_187626.1Chr21|NT_187626.133RemappedNT_187626.1
NT_187628.1Chr21|NT_187628.111RemappedNT_187628.1
NT_187629.1Chr22|NT_187629.122RemappedNT_187629.1
NT_187630.1Chr22|NT_187630.167RemappedNT_187630.1
NT_187632.1Chr22|NT_187632.155RemappedNT_187632.1
NT_187667.1ChrX|NT_187667.1910RemappedNT_187667.1
NW_017363820.1ChrX|NW_017363820.112RemappedNW_017363820.1
NT_187634.1ChrX|NT_187634.1910RemappedNT_187634.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr11,4231,849SubmittedNC_000001.10
NC_000002.11Chr21,0561,405SubmittedNC_000002.11
NC_000003.11Chr39611,256SubmittedNC_000003.11
NC_000004.11Chr41,1001,486SubmittedNC_000004.11
NC_000005.9Chr5583876SubmittedNC_000005.9
NC_000006.11Chr66651,014SubmittedNC_000006.11
NC_000007.13Chr71,3471,665SubmittedNC_000007.13
NC_000008.10Chr8691961SubmittedNC_000008.10
NC_000009.11Chr9733975SubmittedNC_000009.11
NC_000010.10Chr108811,136SubmittedNC_000010.10
NC_000011.9Chr11572763SubmittedNC_000011.9
NC_000012.11Chr12746919SubmittedNC_000012.11
NC_000013.10Chr13382528SubmittedNC_000013.10
NC_000014.8Chr14340435SubmittedNC_000014.8
NC_000015.9Chr15411513SubmittedNC_000015.9
NC_000016.9Chr16757893SubmittedNC_000016.9
NC_000017.10Chr17438569SubmittedNC_000017.10
NC_000018.9Chr18281416SubmittedNC_000018.9
NC_000019.9Chr19476563SubmittedNC_000019.9
NC_000020.10Chr20467584SubmittedNC_000020.10
NC_000021.8Chr21487546SubmittedNC_000021.8
NC_000022.10Chr22396471SubmittedNC_000022.10
NC_000023.10ChrX467594SubmittedNC_000023.10
NC_000024.9ChrY190191SubmittedNC_000024.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr11,4231,0581861162731,8491,454202116287
NC_000002.11Chr21,056773271413811,4051,09932161397
NC_000003.11Chr39617724003401,2561,062400345
NC_000004.11Chr41,1008248004871,4861,182800515
NC_000005.9Chr5583492000134876777000142
NC_000006.11Chr666558417601081,0149281860112
NC_000007.13Chr71,3471,123261503241,6651,43427180327
NC_000008.10Chr8691533960198961781960220
NC_000009.11Chr9733536328130897576144121309
NC_000010.10Chr108817605501761,1361,005680182
NC_000011.9Chr11572491920118763672950125
NC_000012.11Chr12746593304243919750304259
NC_000013.10Chr13382262110219528407110220
NC_000014.8Chr14340281020101435366050108
NC_000015.9Chr15411306700160513402700166
NC_000016.9Chr16757638202217893768204221
NC_000017.10Chr17438277654247569393974257
NC_000018.9Chr182812380007341636600080
NC_000019.9Chr194763699101555634441310163
NC_000020.10Chr20467286000354584400000357
NC_000021.8Chr21487374300208546432400208
NC_000022.10Chr223963409108347141094085
NC_000023.10ChrX467398176180594522177182
NC_000024.9ChrY1909400017919194000180

Samplesets

Number of Samplesets: 1

Name:
WGS DNA biopsies from oesophageal cancer patients
Sampleset Type:
Case
Description:
WGS DNA biopsies
Size:
4
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexEthnicitySubject Phenotype
    M456Oesophageal CellsM456MaleMixed Ancestry- South AfricaNot reported
    B381Oesophageal CellsB381MaleBlack - South AfricaNot reported
    B450Oesophageal CellsB450FemaleBlack - South AfricaNot reported
    M478Oesophageal CellsM478FemaleMixed Ancestry- South AfricaNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoverySequencingPaired-end mappingIllumina HiSeq200019,508

    Validations

    No validation data were submitted for this study.

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