ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_48000
This mutation occurs on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Benign
TTGGGATTACATGATTTCTTTTTCCAGGTTGTTGTGAGGCTGAGAGATAATAACATGTGTAATGCTCCTAGCACAATGTCTAATACTAACTTGGTACTCAGTAAAAAACTGAATTGAATAAGCGAGGTATTCTATGCCATAGCTTTTCAGAAGACAAAAATGAAGAAGCAGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGAGGATCTCTTGAGCCCAGGAGTGTGAGACCAGCCTGGGCAACATAGCAAGGCCCTATCTCTTAAAAAGAGAGAGTCTTGAAAGATTTGCAAAGGCAGAGGGGAGTGGC...
TTGGGATTACATGATTTCTTTTTCCAGGTTGTTGTGAGGCTGAGAGATAATAACATGTGTAATGCTCCTAGCACAATGTCTAATACTAACTTGGTACTCAGTAAAAAACTGAATTGAATAAGCGAGGTATTCTATGCCATAGCTTTTCAGAAGACAAAAATGAAGAAGCAGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGAGGATCTCTTGAGCCCAGGAGTGTGAGACCAGCCTGGGCAACATAGCAAGGCCCTATCTCTTAAAAAGAGAGAGTCTTGAAAGATTTGCAAAGGCAGAGGGGAGTGGC...
Task1_train_48001
A mutation located on Chromosome 20 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
TGAAGATGACTCGGGGGCCCTCGGTGAGTGGTTGCCTCCCCTGGACTCCAGGGTTCAAGCTATCATCCCTCGATGTCCTTGGAACCTCAGGCTCTATATGCTTTTCTTTCCGTGGCATTGCCGCCAATGACGTTTTCTCCTTGTTCCTCATCCCTGACTGCACCTGGGACTTCCACTCCTTGTACTCTTTTTTCTTAGGGTCCCCTGTGGACTCTAATTTCTTGGACTTGAGTTCCTTCTCGGAGCACCCGATCTCCTGGAACTCTTCATTATTTTGTTTTGTTTTATTGCAGGCACTGTTTTCCCTGGCAGGGAGAGGA...
TGAAGATGACTCGGGGGCCCTCGGTGAGTGGTTGCCTCCCCTGGACTCCAGGGTTCAAGCTATCATCCCTCGATGTCCTTGGAACCTCAGGCTCTATATGCTTTTCTTTCCGTGGCATTGCCGCCAATGACGTTTTCTCCTTGTTCCTCATCCCTGACTGCACCTGGGACTTCCACTCCTTGTACTCTTTTTTCTTAGGGTCCCCTGTGGACTCTAATTTCTTGGACTTGAGTTCCTTCTCGGAGCACCCGATCTCCTGGAACTCTTCATTATTTTGTTTTGTTTTATTGCAGGCACTGTTTTCCCTGGCAGGGAGAGGA...
Task1_train_48002
This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease?
Benign
GTTTGGGGTAGATGGCACATGCGTGTGTACGTGTTTGTGTGGGTGGAGAGAAAAGGAGGGGCGCGGGAGGAGTTGCTTTAGCCTTTGTCTGGGTTTTGAAGGATGGGAAGGGGTGGGCTGCAGCACTGGAGGAAGGGAACCCTCCACCCTGAGATCTCTGTCTCTATCCTATCCTGTCCCTGGCCTTCTGAGGCAAGCGGGGCCAATTAAGGGGAAAACGTACCTCCTCCATTTGTGCTGAACCAATCCCTCCAACCCCTCTCAGGAGGGCATGATATGGAGAGTTGGGCATTGGCTGTGTTCCCTGAATACAGAGTATC...
GTTTGGGGTAGATGGCACATGCGTGTGTACGTGTTTGTGTGGGTGGAGAGAAAAGGAGGGGCGCGGGAGGAGTTGCTTTAGCCTTTGTCTGGGTTTTGAAGGATGGGAAGGGGTGGGCTGCAGCACTGGAGGAAGGGAACCCTCCACCCTGAGATCTCTGTCTCTATCCTATCCTGTCCCTGGCCTTCTGAGGCAAGCGGGGCCAATTAAGGGGAAAACGTACCTCCTCCATTTGTGCTGAACCAATCCCTCCAACCCCTCTCAGGAGGGCATGATATGGAGAGTTGGGCATTGGCTGTGTTCCCTGAATACAGAGTATC...
Task1_train_48003
A mutation has occurred on Chromosome 20. What is the medical relevance of this mutation?
Benign
CTAGGACATTTTGGTAAGACAGAATATCTGATTGGTGTTAGCCATGGAGAATGCTCCCTCTTGTGAAATGTTGAGAAGGGAAGAGAGAGTGAGGGTGGGTGGTATGGAGCCAGGGGCTAGGAATGAGGCAATCTCTCTTTTGTGGAAGTCCTCAGTAGGTTGGTGTGACTGCTGCTCTCCAACCTGGAAAAAGAAGACAGCGGCCATGGGAGACATTTAGGATTTTGTCTCAGGTTCTTCCCAGAGATGATCCAGGAATCCTGCTTCCCGGTGTTCTCCACAAAAGGGAGATGTGTTTGTTGCCTTGCCAGCATAACTTG...
CTAGGACATTTTGGTAAGACAGAATATCTGATTGGTGTTAGCCATGGAGAATGCTCCCTCTTGTGAAATGTTGAGAAGGGAAGAGAGAGTGAGGGTGGGTGGTATGGAGCCAGGGGCTAGGAATGAGGCAATCTCTCTTTTGTGGAAGTCCTCAGTAGGTTGGTGTGACTGCTGCTCTCCAACCTGGAAAAAGAAGACAGCGGCCATGGGAGACATTTAGGATTTTGTCTCAGGTTCTTCCCAGAGATGATCCAGGAATCCTGCTTCCCGGTGTTCTCCACAAAAGGGAGATGTGTTTGTTGCCTTGCCAGCATAACTTG...
Task1_train_48004
A variant on Chromosome 20 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
ACAACAGATGCTGGTAAAGCTGTGGAGAAACATGAATGCTTTTACACTGTTGGGAATGTAAATTGGTTCAACCATTGTGGAAGAGAGTGTGCCAATTCCTGAAAGATCTAGAACCAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATACACTCAAAGGAATATAAATCATTCTTTTATAAAGATACATGCATGTGTATGTTCACTGCAGCACTATTTACAATAGCAAAAACATGGAATCAAACCAAATATCCATCAACGATAGGCTGGATAAAGAAAATGTGGTACATATATGCCATGGAATACTATGCAGCC...
ACAACAGATGCTGGTAAAGCTGTGGAGAAACATGAATGCTTTTACACTGTTGGGAATGTAAATTGGTTCAACCATTGTGGAAGAGAGTGTGCCAATTCCTGAAAGATCTAGAACCAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATACACTCAAAGGAATATAAATCATTCTTTTATAAAGATACATGCATGTGTATGTTCACTGCAGCACTATTTACAATAGCAAAAACATGGAATCAAACCAAATATCCATCAACGATAGGCTGGATAAAGAAAATGTGGTACATATATGCCATGGAATACTATGCAGCC...
Task1_train_48005
This mutation occurs on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Benign
CAGAGCATAGAAAAAGTAGCTAGGTTTCCCAATTAGTTCCCATACTCATTTTTTGAAAGTAATATGACCCAAATAGAAAAAACAAATTTAAAAAGACCTATTTTTCTTTTGACTATAGATGTGAAAATTCAAACTATACTATTAGCTAAAAAGAACCAATAATATATTGATACAGCAGTCTGCAATTAAGTTTATTAAGAATGCAAGGATGGCTCAAGAAAATTTAGTAATTTATTATGCCAACAAATTAGAAGAGAAAAATCATTATGTGACTGTATGCTTAAAAGGTATTTGATAAAATTCAGTAGTCATTTTCAGTA...
CAGAGCATAGAAAAAGTAGCTAGGTTTCCCAATTAGTTCCCATACTCATTTTTTGAAAGTAATATGACCCAAATAGAAAAAACAAATTTAAAAAGACCTATTTTTCTTTTGACTATAGATGTGAAAATTCAAACTATACTATTAGCTAAAAAGAACCAATAATATATTGATACAGCAGTCTGCAATTAAGTTTATTAAGAATGCAAGGATGGCTCAAGAAAATTTAGTAATTTATTATGCCAACAAATTAGAAGAGAAAAATCATTATGTGACTGTATGCTTAAAAGGTATTTGATAAAATTCAGTAGTCATTTTCAGTA...
Task1_train_48006
This variant is present on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Benign
GAAAGTAATATGACCCAAATAGAAAAAACAAATTTAAAAAGACCTATTTTTCTTTTGACTATAGATGTGAAAATTCAAACTATACTATTAGCTAAAAAGAACCAATAATATATTGATACAGCAGTCTGCAATTAAGTTTATTAAGAATGCAAGGATGGCTCAAGAAAATTTAGTAATTTATTATGCCAACAAATTAGAAGAGAAAAATCATTATGTGACTGTATGCTTAAAAGGTATTTGATAAAATTCAGTAGTCATTTTCAGTAGTAGCTATAAATGGATAGGAAATAGGCTTAAAAAGGAAATAACTGGCCAGGCAC...
GAAAGTAATATGACCCAAATAGAAAAAACAAATTTAAAAAGACCTATTTTTCTTTTGACTATAGATGTGAAAATTCAAACTATACTATTAGCTAAAAAGAACCAATAATATATTGATACAGCAGTCTGCAATTAAGTTTATTAAGAATGCAAGGATGGCTCAAGAAAATTTAGTAATTTATTATGCCAACAAATTAGAAGAGAAAAATCATTATGTGACTGTATGCTTAAAAGGTATTTGATAAAATTCAGTAGTCATTTTCAGTAGTAGCTATAAATGGATAGGAAATAGGCTTAAAAAGGAAATAACTGGCCAGGCAC...
Task1_train_48007
This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Benign
TGTTTATAATAGATTGTAAGGAGGATAGAAGCAGGGAGACCTTTTAAGAGGCTGTTGGGGTAATCCAAGTAAGAAGATGGCTCTTCAGATCAGGGTGGCAGCTGCGGAGGTGGTAAGGTTTTACCAGATTTAGGATCTACTTTCAAGGTAGAACTAAAATTATTTCCTAACTAACTTAATGGATGTTAATTGATAAAGAGAGGCATCAACTGTGATTGTGAAGTTTTTCAACCAAGATGAGAAGCATGGATAGAACCGGTTTGCGTTAGGGGAGTGATGGTAAGAGGTACTGGTTTATGTTTATGTTGAGCTTATTTTTC...
TGTTTATAATAGATTGTAAGGAGGATAGAAGCAGGGAGACCTTTTAAGAGGCTGTTGGGGTAATCCAAGTAAGAAGATGGCTCTTCAGATCAGGGTGGCAGCTGCGGAGGTGGTAAGGTTTTACCAGATTTAGGATCTACTTTCAAGGTAGAACTAAAATTATTTCCTAACTAACTTAATGGATGTTAATTGATAAAGAGAGGCATCAACTGTGATTGTGAAGTTTTTCAACCAAGATGAGAAGCATGGATAGAACCGGTTTGCGTTAGGGGAGTGATGGTAAGAGGTACTGGTTTATGTTTATGTTGAGCTTATTTTTC...
Task1_train_48008
The following genetic variant occurs on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TCTTCTTAGACCAGATGGTCATCCTTCAGCCCACAGTAGTGATCGGCCAATAGAATCTAGGGGTTTAGCATTGATTTAAGGGGCTCTCTAGAAGAGAAAAGTTAGTCAAAAGTCAAGAATCCTGGGATAAATCCATTTCTAAAATTAATAGCATCCTAGGCCCCAGATGAAAAAGGACAGCAATTCTTCTGCTAAATCAGAAGTTACCCACTTTTAAGCAATTTCCCCCAAGAAGTTTGCCAACTGAACAGACAGATAGATACCAGGTCTCCTTGGGCCTGGCTGAGAGTAGAGCGCCCATGGAGACGCCCAACTAAGGG...
TCTTCTTAGACCAGATGGTCATCCTTCAGCCCACAGTAGTGATCGGCCAATAGAATCTAGGGGTTTAGCATTGATTTAAGGGGCTCTCTAGAAGAGAAAAGTTAGTCAAAAGTCAAGAATCCTGGGATAAATCCATTTCTAAAATTAATAGCATCCTAGGCCCCAGATGAAAAAGGACAGCAATTCTTCTGCTAAATCAGAAGTTACCCACTTTTAAGCAATTTCCCCCAAGAAGTTTGCCAACTGAACAGACAGATAGATACCAGGTCTCCTTGGGCCTGGCTGAGAGTAGAGCGCCCATGGAGACGCCCAACTAAGGG...
Task1_train_48009
This mutation on Chromosome 20 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
TAAGGAAGAGGGCTTGGGAAAGATAGGGACTATTCAGTTAATGGAAGGTGCTGGAGTGTTAGATCCTGAGACCCAAATTGGGTCCCATCAGAGGAGTAGCCATGTTGGTGGGTGCTGGATAGGAGGAGCTTTGGGGTTGGTGCAGGCACTCACTCTCACTAGGATGCCTCTGGTCTCAAGTAATGGAGAGAAGTGAGAAAAAGTGAGCTCAGAGGAAACATCCTCTTCCGGCCACATCATATCCTCTCTCTCTCTTGTGGCCTTAGGCATGTCGCTGGCCTTCCTGGGACTCATTATCCTCATTGTAAAGAGACAGCAAT...
TAAGGAAGAGGGCTTGGGAAAGATAGGGACTATTCAGTTAATGGAAGGTGCTGGAGTGTTAGATCCTGAGACCCAAATTGGGTCCCATCAGAGGAGTAGCCATGTTGGTGGGTGCTGGATAGGAGGAGCTTTGGGGTTGGTGCAGGCACTCACTCTCACTAGGATGCCTCTGGTCTCAAGTAATGGAGAGAAGTGAGAAAAAGTGAGCTCAGAGGAAACATCCTCTTCCGGCCACATCATATCCTCTCTCTCTCTTGTGGCCTTAGGCATGTCGCTGGCCTTCCTGGGACTCATTATCCTCATTGTAAAGAGACAGCAAT...
Task1_train_48010
An alteration has been detected on Chromosome 20. Is it pathogenic, and if so, what disease is involved?
Benign
AATTAGCCGGATGTGGTGGTAGGCGCCTGTAATCCCAGCTACTCGGGAGATTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCGGAGATTGTGCCACTGCATGCCAGCCTGGGCGACAGGGCGAGACTAAATAAATAAATAAAGTAAATAAGTAAGTAGTGAAAATGAAACGTCATTAAATCTTGCCTAGATGTTGTTGCCTGAAGGAGGCCCTGACCTGAGATCCACTTTCTGACTCTTTTCTAAAAATGGAGATGAGAAGTGTTAGAGAAGTACTTTTTTTTTTTTTTTTTGAGAGAGAGTT...
AATTAGCCGGATGTGGTGGTAGGCGCCTGTAATCCCAGCTACTCGGGAGATTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCGGAGATTGTGCCACTGCATGCCAGCCTGGGCGACAGGGCGAGACTAAATAAATAAATAAAGTAAATAAGTAAGTAGTGAAAATGAAACGTCATTAAATCTTGCCTAGATGTTGTTGCCTGAAGGAGGCCCTGACCTGAGATCCACTTTCTGACTCTTTTCTAAAAATGGAGATGAGAAGTGTTAGAGAAGTACTTTTTTTTTTTTTTTTTGAGAGAGAGTT...
Task1_train_48011
A mutation found on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
CAGCTGCCCTGCAGGGCACACTCAGTCCCCAGAACTCCACAGAGACAAGCAGGGAGAGAGGCCACTCCTGACCCACCCACACGAGCCCCTCCCAAGACCAAGCCTCACCATCTGGGAGGTCTGAGATCTCCAGGCGGGGCAGCTTCCGGGGCCGGCCAGGTCTCCTTCGGGGCCTTGGGGTACTGGGGGTGGGGCGCTGGAGCCGAAGCTGCCGGCCTCGGGGCTCATCCTCAGCTGGATTATAGTCGCTATCCTCTGTGGGGGACAGTAAAGTTGGTGAACAGTGAGTGGCGGGACCTGCCCTTTCAGCCCTGACCCCT...
CAGCTGCCCTGCAGGGCACACTCAGTCCCCAGAACTCCACAGAGACAAGCAGGGAGAGAGGCCACTCCTGACCCACCCACACGAGCCCCTCCCAAGACCAAGCCTCACCATCTGGGAGGTCTGAGATCTCCAGGCGGGGCAGCTTCCGGGGCCGGCCAGGTCTCCTTCGGGGCCTTGGGGTACTGGGGGTGGGGCGCTGGAGCCGAAGCTGCCGGCCTCGGGGCTCATCCTCAGCTGGATTATAGTCGCTATCCTCTGTGGGGGACAGTAAAGTTGGTGAACAGTGAGTGGCGGGACCTGCCCTTTCAGCCCTGACCCCT...
Task1_train_48012
This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease?
Benign
CAGGATACAGTTTGTTCCTCGTGGCGGCGCATGAGTTCGGCCACGCGCTGGGCTTAGATCATTCCTCAGTGCCGGAGGCGCTCATGTACCCTATGTACCGCTTCACTGAGGGGCCCCCCTTGCATAAGGACGACGTGAATGGCATCCGGCACCTCTATGGTGAGGCAGGGGCAGGGATGGGAGGAGGAGGGGAAAGGGCGTGGCTGTGCCACAGTACCAAAGAATTGGGGGTTGGGGATCGGGGGAGGAACGGGGCGTGCAGGAGAGGTGGGACCTCAACGTCTGTCTGGAAGCAGAGCCTGGGCCCAGTCGCTGCCATG...
CAGGATACAGTTTGTTCCTCGTGGCGGCGCATGAGTTCGGCCACGCGCTGGGCTTAGATCATTCCTCAGTGCCGGAGGCGCTCATGTACCCTATGTACCGCTTCACTGAGGGGCCCCCCTTGCATAAGGACGACGTGAATGGCATCCGGCACCTCTATGGTGAGGCAGGGGCAGGGATGGGAGGAGGAGGGGAAAGGGCGTGGCTGTGCCACAGTACCAAAGAATTGGGGGTTGGGGATCGGGGGAGGAACGGGGCGTGCAGGAGAGGTGGGACCTCAACGTCTGTCTGGAAGCAGAGCCTGGGCCCAGTCGCTGCCATG...
Task1_train_48013
The following genetic variant occurs on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TTTCTCCTTATTAGAATTTAAGCCACTTGAGGGCAAGAAGCCAGTGGATCTCATCCACCGACGTATCCCTCGCACCATTGACCGAAACACAGGAGCGCTATCGACATGTGCCGAATGAATGAATGAATGAATGAATGAGCCCCAGGTGTTTAGGAGACCCTAACAGAGGTGCCCCCGTTGTAGGGACGACTCTCACCTGCAGATGGCCTCCTCAGGCCCTTCGGGTGGCACTGGGGAGCCCAGGGCCTCCCAGCGAAGTGGCCAGATTCAGGAACCCTTCGCACAGCGGGCACTAGGACCCTGCGCGGCGCCGCGTCTCG...
TTTCTCCTTATTAGAATTTAAGCCACTTGAGGGCAAGAAGCCAGTGGATCTCATCCACCGACGTATCCCTCGCACCATTGACCGAAACACAGGAGCGCTATCGACATGTGCCGAATGAATGAATGAATGAATGAATGAGCCCCAGGTGTTTAGGAGACCCTAACAGAGGTGCCCCCGTTGTAGGGACGACTCTCACCTGCAGATGGCCTCCTCAGGCCCTTCGGGTGGCACTGGGGAGCCCAGGGCCTCCCAGCGAAGTGGCCAGATTCAGGAACCCTTCGCACAGCGGGCACTAGGACCCTGCGCGGCGCCGCGTCTCG...
Task1_train_48014
Given this variant on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
ATGCAGTAAGCAGGCAATTATATTATTTTTCCTCTCTACTAGTCACAACTACCCAGGAAGGGAAGTTTTCACTCATTCCTGGCCATCCGCCCCATGCTGGGCACTTGGGGCATGCTGACTGTGGTGAATGAAACAGACAGGGTACTGGTCCTACTATTATAGAATGTTTGCTTCATAAGAACAGGCACTGACTGTATCATCTCTGAACACAATGGAATGAAGCTGGCAATAACAAAAGAAAAATTGGAACATTTACAAATGTGTGGAAATTAACAGATTTCTAAACAATCAAGGGGTCAAAGAAGAAATCACAAGGGAAA...
ATGCAGTAAGCAGGCAATTATATTATTTTTCCTCTCTACTAGTCACAACTACCCAGGAAGGGAAGTTTTCACTCATTCCTGGCCATCCGCCCCATGCTGGGCACTTGGGGCATGCTGACTGTGGTGAATGAAACAGACAGGGTACTGGTCCTACTATTATAGAATGTTTGCTTCATAAGAACAGGCACTGACTGTATCATCTCTGAACACAATGGAATGAAGCTGGCAATAACAAAAGAAAAATTGGAACATTTACAAATGTGTGGAAATTAACAGATTTCTAAACAATCAAGGGGTCAAAGAAGAAATCACAAGGGAAA...
Task1_train_48015
A variant has been detected on Chromosome 20. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
CCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTC...
CCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTC...
Task1_train_48016
This mutation occurs on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Benign
CCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGAT...
CCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGAT...
Task1_train_48017
A genomic variant on Chromosome 20 is under review. What is the biological outcome — benign or pathogenic?
Benign
TTACCAATTTAAATTGGTCTTTACCCCTTTAACTAGGCTTTACTTTGGCGTAAGACAATCTGAAGCAATGAGCCACTTTTTGGCAGCGCTCTTTTTTTTTTTTTTGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCTACCTCTGAGGTTCAAGGGATTCTCATGCCTCCCTCCTGAGTAGCCAGGGTTACGGGCATGTGCCATCATGCCCGGCTAGTTTTTTGCTTTTTTTTTTTTTTTCCATTTTAGTAGAGATGGGGTTTCACCATGTTGACTGGGCTGGTCTTGA...
TTACCAATTTAAATTGGTCTTTACCCCTTTAACTAGGCTTTACTTTGGCGTAAGACAATCTGAAGCAATGAGCCACTTTTTGGCAGCGCTCTTTTTTTTTTTTTTGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCTACCTCTGAGGTTCAAGGGATTCTCATGCCTCCCTCCTGAGTAGCCAGGGTTACGGGCATGTGCCATCATGCCCGGCTAGTTTTTTGCTTTTTTTTTTTTTTTCCATTTTAGTAGAGATGGGGTTTCACCATGTTGACTGGGCTGGTCTTGA...
Task1_train_48018
This variant is located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Benign
GTAAAATGCTCTTATAATTACAATATACATAATTCAGGAAGCCTTGCCCCCCTAGTAAAAATATAGTTGCAAACTGAGGAACCACACATATACAAACATAAAAATATAAGCAAGCAGGAAAGGAAAGGTAGCCTGTAATTTCACAGAGATATTTGGGTACAAATGGCCCTTCATATCCATGGGTTTTGCACCACAGATTTGGAGGCTGAGGAAGAAATAAAAAATAATGTTAAAACAATAAAAAACACCTCAGTGTGATGACTATATAGCACTTACATTGTATTAGGTATTATAACTAATCTAGAGATGATTTAAAGTAT...
GTAAAATGCTCTTATAATTACAATATACATAATTCAGGAAGCCTTGCCCCCCTAGTAAAAATATAGTTGCAAACTGAGGAACCACACATATACAAACATAAAAATATAAGCAAGCAGGAAAGGAAAGGTAGCCTGTAATTTCACAGAGATATTTGGGTACAAATGGCCCTTCATATCCATGGGTTTTGCACCACAGATTTGGAGGCTGAGGAAGAAATAAAAAATAATGTTAAAACAATAAAAAACACCTCAGTGTGATGACTATATAGCACTTACATTGTATTAGGTATTATAACTAATCTAGAGATGATTTAAAGTAT...
Task1_train_48019
A variant found on Chromosome 20 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
CTGATGGAACTATAGTGACTGCACAGACAAAAAGCAAACTCTTCCGAAATCCTGTAACAAATGATCGACATGGCTTTGTCTCAACCCACTTCCTTCAGAGGTAATGATAGATTACTGTGTATTCTAATACAAAATGCAGCAGTGTTCTCAAAATGCTTTATTATTAAAGTAAAAAGGGAAGGGATAAAATGAGACAAAATTTAGGAAGGTTATTGGGTTTGATGAAATGAGTTTAGATTCCTGGATTATGATATGTTTAAGGTTGTATTTTTATGTGAAAGTGATTATTTATTAAATACTTTACAGGAAAGCTAGGTGAT...
CTGATGGAACTATAGTGACTGCACAGACAAAAAGCAAACTCTTCCGAAATCCTGTAACAAATGATCGACATGGCTTTGTCTCAACCCACTTCCTTCAGAGGTAATGATAGATTACTGTGTATTCTAATACAAAATGCAGCAGTGTTCTCAAAATGCTTTATTATTAAAGTAAAAAGGGAAGGGATAAAATGAGACAAAATTTAGGAAGGTTATTGGGTTTGATGAAATGAGTTTAGATTCCTGGATTATGATATGTTTAAGGTTGTATTTTTATGTGAAAGTGATTATTTATTAAATACTTTACAGGAAAGCTAGGTGAT...
Task1_train_48020
Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
AATAAAAGCACTTATTTAGGGAGACAGCTTTTTGGTGATTTGCATACATTCAAGGACAAGTTTGGGAAATCCACTTTAGAGAATGTTTATTCTTGAAATGATTGATTTTCTCATGTCGCCTGTAAGATTTTGAAACACTAGCCTTTAGCTCCCACCCTGAGCCCTCAAAATGGCACAGAATATATGAGTTTCCTTTCAGTCTGATGAATACTATTTCCATGCCCCCTCTGAATTCCCATGATCTTGCATTCCATTTTGATTATGCCACAAACACCTCACTTTGACTCTGGGCAGGTCTCTTTTTTGGGCTGCAGTGGCCC...
AATAAAAGCACTTATTTAGGGAGACAGCTTTTTGGTGATTTGCATACATTCAAGGACAAGTTTGGGAAATCCACTTTAGAGAATGTTTATTCTTGAAATGATTGATTTTCTCATGTCGCCTGTAAGATTTTGAAACACTAGCCTTTAGCTCCCACCCTGAGCCCTCAAAATGGCACAGAATATATGAGTTTCCTTTCAGTCTGATGAATACTATTTCCATGCCCCCTCTGAATTCCCATGATCTTGCATTCCATTTTGATTATGCCACAAACACCTCACTTTGACTCTGGGCAGGTCTCTTTTTTGGGCTGCAGTGGCCC...
Task1_train_48021
A variant affecting Chromosome 20 has been observed. Determine if it's benign or associated with disease.
Benign
AGGCCTGGGTCGCCAGCTGGGAGTGGACAGGAAGGGGCGGACGAGGCAGCCACTCACCGCGGAGCACCCTGGGGCATCTGGTCCTTGACTCGCAGGTTTTTGGCCAGAATCTCCACCCTTGGGCCCTGGAAGAAGGAACCATCAGGCAGGGGCCTCTGCAGGTTCAGGGCACGTGAGGAAGCACACTGGGGGGTGGGGGTGGGGCCCAGAAGCCCAAGGACCCAGAAGCTAAGATCCTTGCTCCCCTCCAGATTCAGAGAAGGCTCAGGTCTGGGGCTGGTGGCTACCAGCCCCTCATCCCACCCTGGCTGCAAGCATGC...
AGGCCTGGGTCGCCAGCTGGGAGTGGACAGGAAGGGGCGGACGAGGCAGCCACTCACCGCGGAGCACCCTGGGGCATCTGGTCCTTGACTCGCAGGTTTTTGGCCAGAATCTCCACCCTTGGGCCCTGGAAGAAGGAACCATCAGGCAGGGGCCTCTGCAGGTTCAGGGCACGTGAGGAAGCACACTGGGGGGTGGGGGTGGGGCCCAGAAGCCCAAGGACCCAGAAGCTAAGATCCTTGCTCCCCTCCAGATTCAGAGAAGGCTCAGGTCTGGGGCTGGTGGCTACCAGCCCCTCATCCCACCCTGGCTGCAAGCATGC...
Task1_train_48022
A variant was discovered on Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
TCAATCACGGCTTTCCTTTCGTCTAAGCCTGGATGTTGTAGCCACAGAAGGATTCTCAGGAACTACCTCCTCATAGCCACAACCAATTGAGATGGCACATGAGTTCTATCCCTTTCCCTACACAGAGGAGGAAGCCCACACACAGAGTGGGAAAGTGACATGCCTTAAGTCATGCAACTGGGCAGTGACAGCGCTGGGACTTACCTCTGGCCCCACCATTCAGAGGCCAGGAAGAAAAAGGCCCCTGCAAAAGACAAAGGCTCTTTCCTCCTGCAAGGTCCCAGTTTCTGAGATATTTGTGGGTTTGCTGTTTCTGCTTT...
TCAATCACGGCTTTCCTTTCGTCTAAGCCTGGATGTTGTAGCCACAGAAGGATTCTCAGGAACTACCTCCTCATAGCCACAACCAATTGAGATGGCACATGAGTTCTATCCCTTTCCCTACACAGAGGAGGAAGCCCACACACAGAGTGGGAAAGTGACATGCCTTAAGTCATGCAACTGGGCAGTGACAGCGCTGGGACTTACCTCTGGCCCCACCATTCAGAGGCCAGGAAGAAAAAGGCCCCTGCAAAAGACAAAGGCTCTTTCCTCCTGCAAGGTCCCAGTTTCTGAGATATTTGTGGGTTTGCTGTTTCTGCTTT...
Task1_train_48023
A variant was discovered on Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
CACCACGCTCAGCCATGGGTACTTCTTTGAACTGCTCTGTGTCATTTGGATTTTCGGTTTACACATGTATCATTTTTACATAAACCATGAGGTCACCCTGTTTAGTTGTCAGCACACGCATCACAACATTCATCGAACATGAAGTACACAGAATTGAACCGTGCATGCTTCCATTTGCTCCATCTCCATGACATTCACGGAGAACATCAGCTCTAAGAGGGCGGAGATGTTTGTTTCTTTCGCTGCCGCATTCCCAGTGCCCAGCACATAATATGGGCTCAAGAAATACTTGTTGAATGACTGAATGGAAGGAAATCAAG...
CACCACGCTCAGCCATGGGTACTTCTTTGAACTGCTCTGTGTCATTTGGATTTTCGGTTTACACATGTATCATTTTTACATAAACCATGAGGTCACCCTGTTTAGTTGTCAGCACACGCATCACAACATTCATCGAACATGAAGTACACAGAATTGAACCGTGCATGCTTCCATTTGCTCCATCTCCATGACATTCACGGAGAACATCAGCTCTAAGAGGGCGGAGATGTTTGTTTCTTTCGCTGCCGCATTCCCAGTGCCCAGCACATAATATGGGCTCAAGAAATACTTGTTGAATGACTGAATGGAAGGAAATCAAG...
Task1_train_48024
A mutation is present on Chromosome 20. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CACATGAGAAGGGTTTGCCTGAGAGTGAACCCAGCGCTAAGGAAAACGAAGCCAGGAGATGCGGAGAGGCCGCACTGCTATGATGTGATAAGTTCACCTCCGTCCTTTTCAGTAATACACACCATACATTCTCCTGTTTGTTTCAGCTGAGTTGGGTTGGGCTTTGTAATTTACAACCCAAATATCCCAGGCTGAGATGCTATGTCTGGGACCTGTGGCAGAGACCCCGGAGGGAGCACGCAGGCACCTCCTGGTAGCAGGCAATCCTCTGGCCAATGCTCTCCAGCTTGGTGTCACAGATGTTGCGGAACTCAAAGTGG...
CACATGAGAAGGGTTTGCCTGAGAGTGAACCCAGCGCTAAGGAAAACGAAGCCAGGAGATGCGGAGAGGCCGCACTGCTATGATGTGATAAGTTCACCTCCGTCCTTTTCAGTAATACACACCATACATTCTCCTGTTTGTTTCAGCTGAGTTGGGTTGGGCTTTGTAATTTACAACCCAAATATCCCAGGCTGAGATGCTATGTCTGGGACCTGTGGCAGAGACCCCGGAGGGAGCACGCAGGCACCTCCTGGTAGCAGGCAATCCTCTGGCCAATGCTCTCCAGCTTGGTGTCACAGATGTTGCGGAACTCAAAGTGG...
Task1_train_48025
An alteration has been detected on Chromosome 20. Is it pathogenic, and if so, what disease is involved?
Benign
CCCCAGCATCTCTCTGGAAGCCCTTATAGAGCGGGGCATGGCTGGGGCAGGCGCACTCTTCTGTGTGTTTGCTGTGAATCTGTACTGAGAATCCCCACAGCCGTTCATTCAGGCCGGAGAGCTTCCTATCGCTCTACTTAGGTTCTGGATTTCTAGAAGTTTCTCATCACCCTCACTTTAATTTTTTTCCCAGGATAAAGAAGCCAAGTCTGGGAAGTTGGAAAAGGAGAAAGAAGCAAAGGAAGGCTCTGAACCAAAGGAGCAGGAAGACCTTCAAGAGAATGATGAGGAAGGCTCAGAAGATGAAGCCTCGGAGACTG...
CCCCAGCATCTCTCTGGAAGCCCTTATAGAGCGGGGCATGGCTGGGGCAGGCGCACTCTTCTGTGTGTTTGCTGTGAATCTGTACTGAGAATCCCCACAGCCGTTCATTCAGGCCGGAGAGCTTCCTATCGCTCTACTTAGGTTCTGGATTTCTAGAAGTTTCTCATCACCCTCACTTTAATTTTTTTCCCAGGATAAAGAAGCCAAGTCTGGGAAGTTGGAAAAGGAGAAAGAAGCAAAGGAAGGCTCTGAACCAAAGGAGCAGGAAGACCTTCAAGAGAATGATGAGGAAGGCTCAGAAGATGAAGCCTCGGAGACTG...
Task1_train_48026
A variant was discovered on Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACTCGGCCCCCTTTTTGTTTTTTTTAATGGCTTCATGTTCTTCCATCATATGAGTAGATTGTTGAGGGACATTGAGGTTGTTTACAATCATTTGTCATCCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACTAAAAATCAAAAAATTAGCCAGACATGGTGGTGCATGCCTATAGTCCAACTACTTGAGAGGCTGAGGTAGGAGGATCACCTGAGCCTGGGGAGGTCAAGG...
TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACTCGGCCCCCTTTTTGTTTTTTTTAATGGCTTCATGTTCTTCCATCATATGAGTAGATTGTTGAGGGACATTGAGGTTGTTTACAATCATTTGTCATCCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACTAAAAATCAAAAAATTAGCCAGACATGGTGGTGCATGCCTATAGTCCAACTACTTGAGAGGCTGAGGTAGGAGGATCACCTGAGCCTGGGGAGGTCAAGG...
Task1_train_48027
Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
AATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCCTAAAAAGGATGATAATAAAAAACAAACTTCAGTTCCTTCATTAGGGAGCTGGCCCCAGTCATTCAGTGGCGAGGGCA...
AATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCCTAAAAAGGATGATAATAAAAAACAAACTTCAGTTCCTTCATTAGGGAGCTGGCCCCAGTCATTCAGTGGCGAGGGCA...
Task1_train_48028
A variant found on Chromosome 20 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
TCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCCTAAAAAGGATGATAATAAAAAACAAACTTCAGTTCCTTCATTAGGGAGCTGGCCCCAGTCATTCAGTGGCGAGGGCAAAAGGCAGTGGTGTACCATCTTCCTACATCATCCCCTGGATCTCCTCAAAGTTCATCAGGTTGTTGGCCGTGTCAGACCAGGCAGCATGCTGGGCTCCATCCATTTCAGAAGCAAGCTGGTTGCTTCTTTCCAGAGTATGATTTGTGCCACCAATCACTTCCT...
TCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCCTAAAAAGGATGATAATAAAAAACAAACTTCAGTTCCTTCATTAGGGAGCTGGCCCCAGTCATTCAGTGGCGAGGGCAAAAGGCAGTGGTGTACCATCTTCCTACATCATCCCCTGGATCTCCTCAAAGTTCATCAGGTTGTTGGCCGTGTCAGACCAGGCAGCATGCTGGGCTCCATCCATTTCAGAAGCAAGCTGGTTGCTTCTTTCCAGAGTATGATTTGTGCCACCAATCACTTCCT...
Task1_train_48029
A variant was discovered on Chromosome 20. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TTCCTTCATTAGGGAGCTGGCCCCAGTCATTCAGTGGCGAGGGCAAAAGGCAGTGGTGTACCATCTTCCTACATCATCCCCTGGATCTCCTCAAAGTTCATCAGGTTGTTGGCCGTGTCAGACCAGGCAGCATGCTGGGCTCCATCCATTTCAGAAGCAAGCTGGTTGCTTCTTTCCAGAGTATGATTTGTGCCACCAATCACTTCCTTACAGTCAGGACACGTGCCCCTCTCCATGGCTCCCCCACAATCGCCAATCACATAGATATGGCCATTGCGGCACTTGAACCAGTGACCACGAGGATAACCTATGGCACTGAC...
TTCCTTCATTAGGGAGCTGGCCCCAGTCATTCAGTGGCGAGGGCAAAAGGCAGTGGTGTACCATCTTCCTACATCATCCCCTGGATCTCCTCAAAGTTCATCAGGTTGTTGGCCGTGTCAGACCAGGCAGCATGCTGGGCTCCATCCATTTCAGAAGCAAGCTGGTTGCTTCTTTCCAGAGTATGATTTGTGCCACCAATCACTTCCTTACAGTCAGGACACGTGCCCCTCTCCATGGCTCCCCCACAATCGCCAATCACATAGATATGGCCATTGCGGCACTTGAACCAGTGACCACGAGGATAACCTATGGCACTGAC...
Task1_train_48030
This variant is present on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Benign
CTGGCGGTATTTGGCAGCACCTCAAGTGAGGAAAGAAGAGAAAGGCTCCTCTGAGCTGAGGCACAGGACCCACAGGGCCACTGGGCCTCTGGGAATCCACTTCTGTATCTTCCCTGAACCTGCATCAGCGACAGCTGGTCCTTATAGTGTTCTGGGTGGTCTCCAGAACATTAAAACTGTGTTGGTCACTGTTGGAGTTTCAAACCCAGCAGGAGAAAGTGAGTGAATTTCTTTTTTCTTTTTTTTTTTTTCTTTGAGACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTGACTGCAACCTC...
CTGGCGGTATTTGGCAGCACCTCAAGTGAGGAAAGAAGAGAAAGGCTCCTCTGAGCTGAGGCACAGGACCCACAGGGCCACTGGGCCTCTGGGAATCCACTTCTGTATCTTCCCTGAACCTGCATCAGCGACAGCTGGTCCTTATAGTGTTCTGGGTGGTCTCCAGAACATTAAAACTGTGTTGGTCACTGTTGGAGTTTCAAACCCAGCAGGAGAAAGTGAGTGAATTTCTTTTTTCTTTTTTTTTTTTTCTTTGAGACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTGACTGCAACCTC...
Task1_train_48031
This alteration occurs on Chromosome 20. Is it associated with a disease or is it a benign variant?
Benign
CCCATGTAAACTATGAAAATCAAGGAAGTTGAAGGCAAACAAGGCAATTAAAAAAAAATACGAAGTACTCTTCAGAAAGTACTCCTCATCACAATATATAAATATGTTTTATGGAAAACAAGGGCGGGGGAGGAAAACTGGCATTTTCCAGAATTCTGCAGAAGCCGACAGAGACTACAATTTGAGGGCTTTGGTTTGGGGAAAAACAAAGAGGCACAAATTCAAATACAATTTAGAACATGACTTCAAGGCTGGGCGCAATGGCTCACACCCGCCCATAATCCCAGCACTTTGGGAAGTCAAGGTGGGCGGATTGCTTG...
CCCATGTAAACTATGAAAATCAAGGAAGTTGAAGGCAAACAAGGCAATTAAAAAAAAATACGAAGTACTCTTCAGAAAGTACTCCTCATCACAATATATAAATATGTTTTATGGAAAACAAGGGCGGGGGAGGAAAACTGGCATTTTCCAGAATTCTGCAGAAGCCGACAGAGACTACAATTTGAGGGCTTTGGTTTGGGGAAAAACAAAGAGGCACAAATTCAAATACAATTTAGAACATGACTTCAAGGCTGGGCGCAATGGCTCACACCCGCCCATAATCCCAGCACTTTGGGAAGTCAAGGTGGGCGGATTGCTTG...
Task1_train_48032
Chromosome 20 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
CTGGAAGCTGCTCTCTAGGAGTTACTCTGAAGCAGTTGCCACTTCTTCCCTCGGGCCTTTTCCCTTGATAATTCTTCACTTCCTCTGGGAAGTCACCCCGACCCCCTGTCAGGTGACCCGCCTCTTAACGGTCGCCGCGTCCCGTCTCTCCCCCACCAAAGCACACTTCCCTTTGCATTGTAATTATCTGTTTACTTCGTCTGTCTCCCTCACTGGACCAGAAGCTACCCTTCGGGAGAGGCTCTGAGTGTTCTGTCCGGGGCTGTGCCCTGGCCCCAGGTACAGTGCCCCACACGTGCTGGGCGCTCCGTAAACACTGG...
CTGGAAGCTGCTCTCTAGGAGTTACTCTGAAGCAGTTGCCACTTCTTCCCTCGGGCCTTTTCCCTTGATAATTCTTCACTTCCTCTGGGAAGTCACCCCGACCCCCTGTCAGGTGACCCGCCTCTTAACGGTCGCCGCGTCCCGTCTCTCCCCCACCAAAGCACACTTCCCTTTGCATTGTAATTATCTGTTTACTTCGTCTGTCTCCCTCACTGGACCAGAAGCTACCCTTCGGGAGAGGCTCTGAGTGTTCTGTCCGGGGCTGTGCCCTGGCCCCAGGTACAGTGCCCCACACGTGCTGGGCGCTCCGTAAACACTGG...
Task1_train_48033
A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless?
Benign
AGGGAGGCGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCACCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAGAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGAGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAACAAATAAAACAAAACAAAACAAAAAACA...
AGGGAGGCGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCACCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAGAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGAGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAACAAATAAAACAAAACAAAACAAAAAACA...
Task1_train_48034
Here’s a variant located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Benign
GAATCAGATGGACCTGAGTGTGAATCCCGCCCCTGCCACTTAACCTGAGTGTGAACTTGGGAGCCTGCCCCACCTCTCGGAACCTCAGTTCCTCCATCTATGAAAAGGGAACTTACGTGCAGAAAACCAAGTGACTATGAGGGGGATGGGGCAGTGTGAGATGACGGGACCAGAGCACGTTCCTGGCTGCAGAGGCCACAAGTCACGCTGTCTCTGAGAGGTATGGGGACAGGGGCGCAGAGGAAGAATGATCGCGAGTCCTCAGCCCTGTTTGGCTGACGGGGGACAGGGATGGGTGGGAAAGAGGTACAGCGTTTTTC...
GAATCAGATGGACCTGAGTGTGAATCCCGCCCCTGCCACTTAACCTGAGTGTGAACTTGGGAGCCTGCCCCACCTCTCGGAACCTCAGTTCCTCCATCTATGAAAAGGGAACTTACGTGCAGAAAACCAAGTGACTATGAGGGGGATGGGGCAGTGTGAGATGACGGGACCAGAGCACGTTCCTGGCTGCAGAGGCCACAAGTCACGCTGTCTCTGAGAGGTATGGGGACAGGGGCGCAGAGGAAGAATGATCGCGAGTCCTCAGCCCTGTTTGGCTGACGGGGGACAGGGATGGGTGGGAAAGAGGTACAGCGTTTTTC...
Task1_train_48035
This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Benign
GTGGCTCCCACCTGCTTGTGCCCATCTCTTCTGTCCCGGGGGCAGCTCCCTGACTGTCATTTGGGGATTCCCCTTTCACCAAGGTGGCTGAGCTAATGGGATGCAGGCTGGGCTGCCAGGGACCACCTTTGCCCCCAGAAGGAGGACCAACCTGCCTGAAAGTGAAGCCAACCCACATTGCAAAGCAGAACTGAGAGAGACCTAGTCCTGATAGCATTTGAACCCGTGCATCCAGCCGAGCCTGAAGCCTACCTCTGAGGCTTTCAGTACCATGAGCCGATAAATTTTCCTGTTGGCTGAGCCAGTTTGCATTAGGGTTC...
GTGGCTCCCACCTGCTTGTGCCCATCTCTTCTGTCCCGGGGGCAGCTCCCTGACTGTCATTTGGGGATTCCCCTTTCACCAAGGTGGCTGAGCTAATGGGATGCAGGCTGGGCTGCCAGGGACCACCTTTGCCCCCAGAAGGAGGACCAACCTGCCTGAAAGTGAAGCCAACCCACATTGCAAAGCAGAACTGAGAGAGACCTAGTCCTGATAGCATTTGAACCCGTGCATCCAGCCGAGCCTGAAGCCTACCTCTGAGGCTTTCAGTACCATGAGCCGATAAATTTTCCTGTTGGCTGAGCCAGTTTGCATTAGGGTTC...
Task1_train_48036
This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease?
Benign
GACCGGCTCCCAGGGGATGGCGAGGAGGGCTCAGAGCATCAGGGAAATCATGACAATGACGAATGGCCGAGTGTGGGCTCAGTGAGTTCCTATAAAACCCTTAAGCACTTGAGGCCCAAGTCTTTGCCAAGAATTTTCCAGAAAATGACTGGCCTGAAGGCCTGGATATTTGGATAGGGAGAAATTAGCAGTGGACAGATTTGGAAGTGGGAATTGTGCAGTGATGGACTACACAAAAGGCAGGTCAAACATGTGTTGTTTAGGCCCCTACCTAGGGTGGCCAACTACAATATAAATTCAGATTTAATGGAGAGGAAGGT...
GACCGGCTCCCAGGGGATGGCGAGGAGGGCTCAGAGCATCAGGGAAATCATGACAATGACGAATGGCCGAGTGTGGGCTCAGTGAGTTCCTATAAAACCCTTAAGCACTTGAGGCCCAAGTCTTTGCCAAGAATTTTCCAGAAAATGACTGGCCTGAAGGCCTGGATATTTGGATAGGGAGAAATTAGCAGTGGACAGATTTGGAAGTGGGAATTGTGCAGTGATGGACTACACAAAAGGCAGGTCAAACATGTGTTGTTTAGGCCCCTACCTAGGGTGGCCAACTACAATATAAATTCAGATTTAATGGAGAGGAAGGT...
Task1_train_48037
A mutation is present on Chromosome 20. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTCTAAAAAATTAAAAATAATAAAACTGTGTTGTACCATGGGCTGCAGCCAGCATAGCCCCAGCTCTGGACTTTAGGCTGATGACCTGTACCTCTTCGTCCCCTCCACTGTGGAGGATTTGAGACCAGGGAGAAGTAGAGCGGCATCTTCTCCACTTTTATGCACCAGCCCTGGTTGGAACTCTTCAACTCTAAACAGCAACATGACTAACAGCCAATAGTTATATTGAGCCCCTACTGTATACGAAGGGCTTTCTGTGCCTCATCTCAATTTCCT...
GAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTCTAAAAAATTAAAAATAATAAAACTGTGTTGTACCATGGGCTGCAGCCAGCATAGCCCCAGCTCTGGACTTTAGGCTGATGACCTGTACCTCTTCGTCCCCTCCACTGTGGAGGATTTGAGACCAGGGAGAAGTAGAGCGGCATCTTCTCCACTTTTATGCACCAGCCCTGGTTGGAACTCTTCAACTCTAAACAGCAACATGACTAACAGCCAATAGTTATATTGAGCCCCTACTGTATACGAAGGGCTTTCTGTGCCTCATCTCAATTTCCT...
Task1_train_48038
With a mutation on Chromosome 20, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
CAAACTCCTGGGCTCAAGCAATCCACCTGCCTTGGCCTCTCAAAGTACTCAGATTATGGGTGCTGAGCCACTGCACCCAGGTAGTATTTCTAATTTTTAAAATTAAAATGTAAACATTTTAATTTTTTTAAGAGACAAGGTCTCACTTTGTTTTCTAAGCTGGAGTGCAGTGGCATGATCACAGATCACTGCAGCCTTGATCTCTCAGGCTCAAGTGGTCCTCCCACTTCAGCTTCCCAATTGGCGGGGACCCAAGCATGCAACACCATGCCCAACTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAG...
CAAACTCCTGGGCTCAAGCAATCCACCTGCCTTGGCCTCTCAAAGTACTCAGATTATGGGTGCTGAGCCACTGCACCCAGGTAGTATTTCTAATTTTTAAAATTAAAATGTAAACATTTTAATTTTTTTAAGAGACAAGGTCTCACTTTGTTTTCTAAGCTGGAGTGCAGTGGCATGATCACAGATCACTGCAGCCTTGATCTCTCAGGCTCAAGTGGTCCTCCCACTTCAGCTTCCCAATTGGCGGGGACCCAAGCATGCAACACCATGCCCAACTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAG...
Task1_train_48039
A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless?
Benign
CTTCTCTCCAGTGTGAGTCCGCTCGTGGATCTGAAGAGCGCTAGCAGACGAGAAGTTCTTCCCACACCGTGTGCAGCCATGTTGCTTGGCCTGTCGGCGTGGCTGGGCTGCTAACAAAGGGGTCATCCCTGGGGACAATGTCGAGGGTCCCACAAATGTGCCAGGAACTTCAACCTTGACATAGGTCGGCGGGGCTCGGATAAACGTGGAAGGGAGACTGCTCCGACCTAGTACACAGAGGGGAAAAAAGCCAGACCTTTATCATCCAACCTTCATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTG...
CTTCTCTCCAGTGTGAGTCCGCTCGTGGATCTGAAGAGCGCTAGCAGACGAGAAGTTCTTCCCACACCGTGTGCAGCCATGTTGCTTGGCCTGTCGGCGTGGCTGGGCTGCTAACAAAGGGGTCATCCCTGGGGACAATGTCGAGGGTCCCACAAATGTGCCAGGAACTTCAACCTTGACATAGGTCGGCGGGGCTCGGATAAACGTGGAAGGGAGACTGCTCCGACCTAGTACACAGAGGGGAAAAAAGCCAGACCTTTATCATCCAACCTTCATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTG...
Task1_train_48040
A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless?
Benign
GAATGGCTTAAGGTACAAATATGGATGATTCTAGCTTGCTCTCTGGCACCACCTACTGATCAAACAGCATTTCAATGTAAAACAACACAATCTGAATTTTCCTCTTCTCAATACAACCTATGCTTTGGAAAAAATCTAGGTACTCTCTCAGTCCACTCATCTGGATTCTGCACAGATATTAACATCTCAAAAATGGTATTCTAGAAAATTCTGTCTTGTTAGTAGGAACTTTGATCATTTTTGTGTCTAAACAGAAATGCCAGGATTGTCAGTCTGAAGTTTCAAAATGAAAACAACAGTGGGATGGATCACTTTATCAC...
GAATGGCTTAAGGTACAAATATGGATGATTCTAGCTTGCTCTCTGGCACCACCTACTGATCAAACAGCATTTCAATGTAAAACAACACAATCTGAATTTTCCTCTTCTCAATACAACCTATGCTTTGGAAAAAATCTAGGTACTCTCTCAGTCCACTCATCTGGATTCTGCACAGATATTAACATCTCAAAAATGGTATTCTAGAAAATTCTGTCTTGTTAGTAGGAACTTTGATCATTTTTGTGTCTAAACAGAAATGCCAGGATTGTCAGTCTGAAGTTTCAAAATGAAAACAACAGTGGGATGGATCACTTTATCAC...
Task1_train_48041
Here is a genetic alteration on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Benign
ATGGGCTCTTGTCTCCAGTTTTCCCACAGTTTTCCCCTGTGATGTGGTTATCTATTTAGTGACATTTCAATGAAATTCCACTGCTTAACCTTTAGCCTTTGGGTCTCATCAAAGGGTTCTTCTTCATTAGGTTGGCAATACAAAGATAGCAGCATCTCCTGTATTCGGGCATTCTCCCATCAGGCAGACTTGGGTGTCTGTCCTCACTCTGCAACGCTAGCTGTGTGGCCTTGGGTGAATTTCCTTACCTTAAAGCCTCAGTTTCCCCCTCTGTGAAATGAAAGTAATAGTGGCTACTTCATGCAGATATTAGACAAAAT...
ATGGGCTCTTGTCTCCAGTTTTCCCACAGTTTTCCCCTGTGATGTGGTTATCTATTTAGTGACATTTCAATGAAATTCCACTGCTTAACCTTTAGCCTTTGGGTCTCATCAAAGGGTTCTTCTTCATTAGGTTGGCAATACAAAGATAGCAGCATCTCCTGTATTCGGGCATTCTCCCATCAGGCAGACTTGGGTGTCTGTCCTCACTCTGCAACGCTAGCTGTGTGGCCTTGGGTGAATTTCCTTACCTTAAAGCCTCAGTTTCCCCCTCTGTGAAATGAAAGTAATAGTGGCTACTTCATGCAGATATTAGACAAAAT...
Task1_train_48042
This variant lies on Chromosome 20. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
AATATGGAGCCTGTTACTGTCGTTTCATCTCTTCTTCTTCTCTTGCAGGCTACGCCCAGGAGGAACAGCTGAAAGAAGAGGAGGAAATAAAAGAAGAGGAGGAGGAGGAGGACAGCGGTTCAGTAGCTCAACTGCAGGGTGGCAATGACACAGGGACGGACGAGGAGCTAGAAACGGGCCCAGAGCAAAAAGGCTGCTTCAGCTACCAGAACTCTCCAGGAAGTCATTTGTCCAATCAGGATGCCGAGAACGAGTCTCTGCTGAGTGACGCCAGTGATCAGGTGTCGGACATCAAGAGTGTCTGCGGCAGAGATGCCTCA...
AATATGGAGCCTGTTACTGTCGTTTCATCTCTTCTTCTTCTCTTGCAGGCTACGCCCAGGAGGAACAGCTGAAAGAAGAGGAGGAAATAAAAGAAGAGGAGGAGGAGGAGGACAGCGGTTCAGTAGCTCAACTGCAGGGTGGCAATGACACAGGGACGGACGAGGAGCTAGAAACGGGCCCAGAGCAAAAAGGCTGCTTCAGCTACCAGAACTCTCCAGGAAGTCATTTGTCCAATCAGGATGCCGAGAACGAGTCTCTGCTGAGTGACGCCAGTGATCAGGTGTCGGACATCAAGAGTGTCTGCGGCAGAGATGCCTCA...
Task1_train_48043
Located on Chromosome 20, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
ACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATCATCTCTTCGTTATTTATAATACCTAATATGAAGTAAATGCTATGTAAATAGTTGTTATACTGTATTATCTAGGGAATTACGACAAGGAAAAGAAAACTGCAGATGTTCAGTACAGATGCGACCATCCATTTTTCCCCCAAATATTTTAGTCCCGCAGTTGGTTGAATCCACTGAGGCAGAACCCAAGGATATGGAGGGCTGACAACATTTAACAGCAAAACGGTTCACAAGACTCTTTAATCGGAAGTTCTTTTGCTTTCTGCTCTTGCCAGGTCAAGGGTCCA...
ACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATCATCTCTTCGTTATTTATAATACCTAATATGAAGTAAATGCTATGTAAATAGTTGTTATACTGTATTATCTAGGGAATTACGACAAGGAAAAGAAAACTGCAGATGTTCAGTACAGATGCGACCATCCATTTTTCCCCCAAATATTTTAGTCCCGCAGTTGGTTGAATCCACTGAGGCAGAACCCAAGGATATGGAGGGCTGACAACATTTAACAGCAAAACGGTTCACAAGACTCTTTAATCGGAAGTTCTTTTGCTTTCTGCTCTTGCCAGGTCAAGGGTCCA...
Task1_train_48044
This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Benign
GAAGAACCCCTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGCCAGTGCATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAGAATTAGCCGGGCGTGGTGGCACGTGCCTATTACCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATTGCTTGAACCCAGGAGAAGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCAGGCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAG...
GAAGAACCCCTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGCCAGTGCATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAGAATTAGCCGGGCGTGGTGGCACGTGCCTATTACCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATTGCTTGAACCCAGGAGAAGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCAGGCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAG...
Task1_train_48045
This mutation occurs on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Benign
TATGACTGTGTGAGTGCATGGATCTATTCCTGCATGATATATATTTATATATATGAATATGTGCATATATATGCAAATATGGGTATAAATATGTATCTGAACATATAGGTGTGTATCTGTAGTGGACACTGTCAATGCACTCATCCTCCAGTTACTTAGGCATCCCAGCTTCTCAGCTCAATGGGGGCCGCTTGCCCATCCCCCCACCTCCCAGGGCAGCCCAGAATTCACCTACCAGGGTTCAAAGGCTGGCTCCCTTGACTCAAGGTCAAACTATCTGGGTGGTGCAATTCATGCTCCAGTTGAAACCAACCCTTGCC...
TATGACTGTGTGAGTGCATGGATCTATTCCTGCATGATATATATTTATATATATGAATATGTGCATATATATGCAAATATGGGTATAAATATGTATCTGAACATATAGGTGTGTATCTGTAGTGGACACTGTCAATGCACTCATCCTCCAGTTACTTAGGCATCCCAGCTTCTCAGCTCAATGGGGGCCGCTTGCCCATCCCCCCACCTCCCAGGGCAGCCCAGAATTCACCTACCAGGGTTCAAAGGCTGGCTCCCTTGACTCAAGGTCAAACTATCTGGGTGGTGCAATTCATGCTCCAGTTGAAACCAACCCTTGCC...
Task1_train_48046
This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Benign
CAATAGATATCCCAGAGCAGATACTCTCCTTAGAATGAAACAGAAACTCTCACCACAATGCTCTTCAGAAAGGCCAGAAACCAGAGATCCCAGTTCAAATGCCTTGTTAACTGTTTTTGTTGTGTAGAAGATTTTAAGATGCAGTGAGTGGCTAAGAACTCAGTGTCTGGAGTCAGAAGGACCTGGTTTGTTTCTAATTCCACCATAACCTTGCTGTGTGACCAAGGATAAACTGACCTCCTAGTTTCCTCATCTCTATGGGAGCAATAAAAGAAATGACACCTTATGGTGCTGTGAGAATTAAATTAGCTAAAAATGGA...
CAATAGATATCCCAGAGCAGATACTCTCCTTAGAATGAAACAGAAACTCTCACCACAATGCTCTTCAGAAAGGCCAGAAACCAGAGATCCCAGTTCAAATGCCTTGTTAACTGTTTTTGTTGTGTAGAAGATTTTAAGATGCAGTGAGTGGCTAAGAACTCAGTGTCTGGAGTCAGAAGGACCTGGTTTGTTTCTAATTCCACCATAACCTTGCTGTGTGACCAAGGATAAACTGACCTCCTAGTTTCCTCATCTCTATGGGAGCAATAAAAGAAATGACACCTTATGGTGCTGTGAGAATTAAATTAGCTAAAAATGGA...
Task1_train_48047
This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Benign
ACTTGATAGTTGTAGATATCTAAATGCTATTGCTACATGGTAAAGTAAAAAATACCTGCAGACAAAATATTTCTTTTTCATCCTGGAGTCAAAGCAAAGACTGCTGCTGAATGTCTTTTAGTCTCAAATCGATCTCCTTTGATTCACTATTAGAAACTTTATGGAAGCAATATCACCTGCAAAAATTTCAATTCACTTCTAGATGGGTAGACCCCCGCCAGGCAGAGAAAATGTGTAGTGTGAACCAATCCACTGAGGCAAAGTAGAGGGAGATCGAAACCGAAATAGCCTGGCTACAACCACTCAAGATTGTTGGCTCA...
ACTTGATAGTTGTAGATATCTAAATGCTATTGCTACATGGTAAAGTAAAAAATACCTGCAGACAAAATATTTCTTTTTCATCCTGGAGTCAAAGCAAAGACTGCTGCTGAATGTCTTTTAGTCTCAAATCGATCTCCTTTGATTCACTATTAGAAACTTTATGGAAGCAATATCACCTGCAAAAATTTCAATTCACTTCTAGATGGGTAGACCCCCGCCAGGCAGAGAAAATGTGTAGTGTGAACCAATCCACTGAGGCAAAGTAGAGGGAGATCGAAACCGAAATAGCCTGGCTACAACCACTCAAGATTGTTGGCTCA...
Task1_train_48048
The following genetic variant occurs on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
CCTTCATTCAACCTTGGGGTCCAGGACAAAGAATTTTTTTGTCCCAATTTTATAGACATGAAGACTTGGGTTCAGACAGATTAAGATTGTACCACTATCAAGTAGCAGAACTGGAGCTGAAATGCAGGTCTTTTGAGACAAAATCTAGGATCCTCTTTTCACAGCCAGCTCCTTCACATGTGGGTAGCAGATGTAGGGGGCAAACCAAGCCATGTATCTGATCCCACTGTTTTTCAAAGCACTTTCCGATATCAGAAGAAGGACCCAAGACACTTATCTGTCACCAAGTTAAACTTCCTTCATGGTTCCCGTGAAACTTA...
CCTTCATTCAACCTTGGGGTCCAGGACAAAGAATTTTTTTGTCCCAATTTTATAGACATGAAGACTTGGGTTCAGACAGATTAAGATTGTACCACTATCAAGTAGCAGAACTGGAGCTGAAATGCAGGTCTTTTGAGACAAAATCTAGGATCCTCTTTTCACAGCCAGCTCCTTCACATGTGGGTAGCAGATGTAGGGGGCAAACCAAGCCATGTATCTGATCCCACTGTTTTTCAAAGCACTTTCCGATATCAGAAGAAGGACCCAAGACACTTATCTGTCACCAAGTTAAACTTCCTTCATGGTTCCCGTGAAACTTA...
Task1_train_48049
A mutation has occurred on Chromosome 20. What is the medical relevance of this mutation?
Benign
CTGAGCCAATGGATAGGCTTTGGATGCCCAAGCAAAACAAACACATGACTGTTAAAAAATCACAACCTCAAAATGGCCTTAGAAGCCTATGACCAATAATGAGAATGGTTTCTCCACTCAGGCGCAAGTAGTAAACAGTTTCTCCCATATGCAGGAATATTGACGACTAGTTTACCGCCTCTGGGCACGTAACTTTCAGGTCCTGGTTCATGCATTTGCTGGAATGTTCCCTGGGCCATGGAGCCCAGTTCTCCTGGCATCTGGCATCTCCCCCACACTCTGCTCCCCCAGCACAGCACTTGGCATCTTGCATTGCAATT...
CTGAGCCAATGGATAGGCTTTGGATGCCCAAGCAAAACAAACACATGACTGTTAAAAAATCACAACCTCAAAATGGCCTTAGAAGCCTATGACCAATAATGAGAATGGTTTCTCCACTCAGGCGCAAGTAGTAAACAGTTTCTCCCATATGCAGGAATATTGACGACTAGTTTACCGCCTCTGGGCACGTAACTTTCAGGTCCTGGTTCATGCATTTGCTGGAATGTTCCCTGGGCCATGGAGCCCAGTTCTCCTGGCATCTGGCATCTCCCCCACACTCTGCTCCCCCAGCACAGCACTTGGCATCTTGCATTGCAATT...
Task1_train_48050
Consider a variant on Chromosome 20. Determine its clinical classification and disease relevance.
Benign
CCTCCAGTGTGTGACTTTTGTGCCTAGATTTTTTCAATTGGCATAAGAGCTTTGAGATTCATTTATGTTGTGCATGTATCAGTAGTCTGTTCCCTTTAATTGTTGCATTGCGTCCCATTGAAGACTTGTGCCACAGTACGTCCCAGTTTATGGGCATTCCTAATTGTTGACTAATATTTATAAGATCTCTACAAACATTGGTGTCTTCACATTTTAGTCTTTGAGTGTCGAGCCTTTGTTTCTCTTGAGAAGCTACCGAGGAGTGGAGTTGCTGGGTTGTATGGTTAGTGTATGTCTAACTTTTCAAGAAACTGCCACAC...
CCTCCAGTGTGTGACTTTTGTGCCTAGATTTTTTCAATTGGCATAAGAGCTTTGAGATTCATTTATGTTGTGCATGTATCAGTAGTCTGTTCCCTTTAATTGTTGCATTGCGTCCCATTGAAGACTTGTGCCACAGTACGTCCCAGTTTATGGGCATTCCTAATTGTTGACTAATATTTATAAGATCTCTACAAACATTGGTGTCTTCACATTTTAGTCTTTGAGTGTCGAGCCTTTGTTTCTCTTGAGAAGCTACCGAGGAGTGGAGTTGCTGGGTTGTATGGTTAGTGTATGTCTAACTTTTCAAGAAACTGCCACAC...
Task1_train_48051
A mutation found on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TAACTATATAGGATAAGCTAAGCTGTGAATAGAGGTGAATCAAAGAATTGGTCACCAAAATATTAATGGTATGTCAAGAATGATAAATCTGTTTTTTTTTTTTAAAGTTTTCCTTATAGAAAAAAAGGACTACTACACCCTGACTTCCATCATGTGAAGCCTTTATAGAATTTCTAAAGATGAGCAGACGTATATATAGACAGGCCCTTCTCTGATAAATTAAAGGCAGACTATGCAGGCTCTTCTGAAGCCTCAGTTTCCAAAGAAGAGCTTTTGTGGCAGAAGTACCAATCTTCCCATGCATGACGAGCTGCCAACTC...
TAACTATATAGGATAAGCTAAGCTGTGAATAGAGGTGAATCAAAGAATTGGTCACCAAAATATTAATGGTATGTCAAGAATGATAAATCTGTTTTTTTTTTTTAAAGTTTTCCTTATAGAAAAAAAGGACTACTACACCCTGACTTCCATCATGTGAAGCCTTTATAGAATTTCTAAAGATGAGCAGACGTATATATAGACAGGCCCTTCTCTGATAAATTAAAGGCAGACTATGCAGGCTCTTCTGAAGCCTCAGTTTCCAAAGAAGAGCTTTTGTGGCAGAAGTACCAATCTTCCCATGCATGACGAGCTGCCAACTC...
Task1_train_48052
This is a variant located on Chromosome 20. Is this mutation a likely cause of disease or not?
Benign
TTTTCACTTAAGATGCTCATAATCTGATGCCTACCTCATTACTTCTCGTTATTTCTAAACTCTTCTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTCACCCAGGTGGGAGTGCAGTGGCGTGATCTCAGCTCATTGCAATCTCCGCCTCACAGGTTCGGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTGGCAGAGACAGGGAGTCACCATGTTGGCAAGGCACATCTCAAATTCCTGACCTCAAGTGACCCTCCTGCCTCAGCCTCCCA...
TTTTCACTTAAGATGCTCATAATCTGATGCCTACCTCATTACTTCTCGTTATTTCTAAACTCTTCTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTCACCCAGGTGGGAGTGCAGTGGCGTGATCTCAGCTCATTGCAATCTCCGCCTCACAGGTTCGGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTGGCAGAGACAGGGAGTCACCATGTTGGCAAGGCACATCTCAAATTCCTGACCTCAAGTGACCCTCCTGCCTCAGCCTCCCA...
Task1_train_48053
Given a variant located on Chromosome 20, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GACTCCATCTCCAAAAAAAACCTATCTTAAGGAAATACTGTTTTTAAAAGGGGCAGGGGGATGTATGCACAAAATGTCCAGTGTTGTTTCTAAGACTATGTAAGTGGCAGCTGTTACCATGATTTAACAAATTTTACCTGATAGACATATTTGCTACAATGTGCTAGAATCTCAGTAGAGTTACATTTAACTACTTTAATATTATAAGTATGGGCCAGATGCAGTGGTTCATGTCTGTAATCTCAGCACTTTGGGAGGCCAAAGTGGTAGGATCACTTCAGCCCAGGAGTTGAGGGCCAGCCTGGGCAGCATAGTGAGAC...
GACTCCATCTCCAAAAAAAACCTATCTTAAGGAAATACTGTTTTTAAAAGGGGCAGGGGGATGTATGCACAAAATGTCCAGTGTTGTTTCTAAGACTATGTAAGTGGCAGCTGTTACCATGATTTAACAAATTTTACCTGATAGACATATTTGCTACAATGTGCTAGAATCTCAGTAGAGTTACATTTAACTACTTTAATATTATAAGTATGGGCCAGATGCAGTGGTTCATGTCTGTAATCTCAGCACTTTGGGAGGCCAAAGTGGTAGGATCACTTCAGCCCAGGAGTTGAGGGCCAGCCTGGGCAGCATAGTGAGAC...
Task1_train_48054
Mutation context: Chromosome 20. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TTCTCTTAGGAGCACAAACCCTGTTGTGAACTGCGCACGTGAGGGATCTAGGTTGCGTGCTGCTTATGAGACTCTAATGCCTGATGATCTGAGGTGGAACAGTTTCATCCCAAAACCTTCCCCCAACCATCTATGGAAAGATTGTCTTCCATGAGACTGGCCCCAGGTGCAAAAAAGGTTGGGAACTACTGTTTTAGATGACATTTCCTACCCTAGTTATAAAACACATTTTCCTATAAATTATTCTTCTTTCCTTTTTTACATTTAGGTGTTTATAACCCTAGTCCAGGGCTTCTCAACCTCAGCACAGGGGCATCTTG...
TTCTCTTAGGAGCACAAACCCTGTTGTGAACTGCGCACGTGAGGGATCTAGGTTGCGTGCTGCTTATGAGACTCTAATGCCTGATGATCTGAGGTGGAACAGTTTCATCCCAAAACCTTCCCCCAACCATCTATGGAAAGATTGTCTTCCATGAGACTGGCCCCAGGTGCAAAAAAGGTTGGGAACTACTGTTTTAGATGACATTTCCTACCCTAGTTATAAAACACATTTTCCTATAAATTATTCTTCTTTCCTTTTTTACATTTAGGTGTTTATAACCCTAGTCCAGGGCTTCTCAACCTCAGCACAGGGGCATCTTG...
Task1_train_48055
A mutation on Chromosome 20 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
AGTGGACCTGAAACACACACCAAAACATGGGCAGTGGTGAGAAGCGGTGAGTCGTTCTAACTGGCCTCCACGTTTCTATAAAGAAACATCCTGTCTGGGCATAATGAATGACTGCAGGTGACACTCCCCAAGCCAAGCACTCCCTGTTCTAAGCACTTTACATGGACAACTCAGTTCTGGGATTATCCCTGTTTTGCAGACAAGGGAACCAAAGCATAGAGGTTTTCACATTATACAGTGGGGAAGGAAGGGGCCAGATCCGACATTCAGGACCAGGTAATTCTCTGTTGGGGAACTGCCCTGTGCACTGTAGATTGCTG...
AGTGGACCTGAAACACACACCAAAACATGGGCAGTGGTGAGAAGCGGTGAGTCGTTCTAACTGGCCTCCACGTTTCTATAAAGAAACATCCTGTCTGGGCATAATGAATGACTGCAGGTGACACTCCCCAAGCCAAGCACTCCCTGTTCTAAGCACTTTACATGGACAACTCAGTTCTGGGATTATCCCTGTTTTGCAGACAAGGGAACCAAAGCATAGAGGTTTTCACATTATACAGTGGGGAAGGAAGGGGCCAGATCCGACATTCAGGACCAGGTAATTCTCTGTTGGGGAACTGCCCTGTGCACTGTAGATTGCTG...
Task1_train_48056
A genetic alteration is present on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GTCTACAAATTTGAATATATCAAAAACCTAAAAATGAGCTAGAAATTGTAAAACTTGGGGTGCAAAGCTCTTGATTTAAACATATGAGAAACTACTATGTACCAAAAGGCTGCAAACTCAACCACCTATGGAAGGCAGAGGCAAGAAACCTAAGTGAAGGGCCCTGACCACATGTAAGAATGGGGTGGTGGTGGCAGTGTTTGGTTGGCATTCTCCTTTTCTAAACTGAGTCACCTTCCAATCCCAGGCACCTGATGCCAGGAGGAAGGAAAACTGTGCCAAGTGTTGCCAGATATAATTTAAAAGAGCTAGAAATTGAA...
GTCTACAAATTTGAATATATCAAAAACCTAAAAATGAGCTAGAAATTGTAAAACTTGGGGTGCAAAGCTCTTGATTTAAACATATGAGAAACTACTATGTACCAAAAGGCTGCAAACTCAACCACCTATGGAAGGCAGAGGCAAGAAACCTAAGTGAAGGGCCCTGACCACATGTAAGAATGGGGTGGTGGTGGCAGTGTTTGGTTGGCATTCTCCTTTTCTAAACTGAGTCACCTTCCAATCCCAGGCACCTGATGCCAGGAGGAAGGAAAACTGTGCCAAGTGTTGCCAGATATAATTTAAAAGAGCTAGAAATTGAA...
Task1_train_48057
Here is a genetic alteration on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Benign
CCCACCTGCCTGTTAAGAAAAGGGTGTTGTGTTTTGCAACAGCAGTAAAATGGGTCAAGGTTTAGTCAGTTGGAAGTTGTGTCAAAACTCACTATGGTTGGTTGAGGGCTCGAAGTCTCCCAGCATTCATTAACAACTATCTGTTCAATGATTATCTCCCTGGGGCGTGTTGCAGTGAGTTGGCCCAAAGCATAACTGACCCTGGCCGTGATCCAGAGACCTGCCCCCTGACGTCAGTGGCGAGCCTCCCTGGGTGCAGCTGAGGGGCAGGGCTATTCTTTTCCACAGTATTTAAAGCTGGGAGGTTCTGCCACCAAGCA...
CCCACCTGCCTGTTAAGAAAAGGGTGTTGTGTTTTGCAACAGCAGTAAAATGGGTCAAGGTTTAGTCAGTTGGAAGTTGTGTCAAAACTCACTATGGTTGGTTGAGGGCTCGAAGTCTCCCAGCATTCATTAACAACTATCTGTTCAATGATTATCTCCCTGGGGCGTGTTGCAGTGAGTTGGCCCAAAGCATAACTGACCCTGGCCGTGATCCAGAGACCTGCCCCCTGACGTCAGTGGCGAGCCTCCCTGGGTGCAGCTGAGGGGCAGGGCTATTCTTTTCCACAGTATTTAAAGCTGGGAGGTTCTGCCACCAAGCA...
Task1_train_48058
Here is a variant on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GAGCTGTGTCAGCCTGATCACATCCACATCTGTGACGGCTCTGAGGAGGAGAATGGGCGGCTTCTGGGCCAGATGGAGGAAGAGGGCATCCTCAGGCGGCTGAAGAAGTATGACAACTGGTAAGCTCGGCCCCCGCTGCCTGTCCCAGCACCCTGCAGGCAGGGCTCCCCTGCGTCTCCTGGGAGTTGGTGGAGAAAGGTGAATGAAGGCCTTCGGGTAGTTTCAGACTCTTGAGAAGATGAATGCAATGGTCAGAACCATACAGACTTGAATTTTGTGACATTAGTGGGCCAGCCCAAGCTTTAAATGAGGTGTGTGCA...
GAGCTGTGTCAGCCTGATCACATCCACATCTGTGACGGCTCTGAGGAGGAGAATGGGCGGCTTCTGGGCCAGATGGAGGAAGAGGGCATCCTCAGGCGGCTGAAGAAGTATGACAACTGGTAAGCTCGGCCCCCGCTGCCTGTCCCAGCACCCTGCAGGCAGGGCTCCCCTGCGTCTCCTGGGAGTTGGTGGAGAAAGGTGAATGAAGGCCTTCGGGTAGTTTCAGACTCTTGAGAAGATGAATGCAATGGTCAGAACCATACAGACTTGAATTTTGTGACATTAGTGGGCCAGCCCAAGCTTTAAATGAGGTGTGTGCA...
Task1_train_48059
A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless?
Benign
ATCTGTGACGGCTCTGAGGAGGAGAATGGGCGGCTTCTGGGCCAGATGGAGGAAGAGGGCATCCTCAGGCGGCTGAAGAAGTATGACAACTGGTAAGCTCGGCCCCCGCTGCCTGTCCCAGCACCCTGCAGGCAGGGCTCCCCTGCGTCTCCTGGGAGTTGGTGGAGAAAGGTGAATGAAGGCCTTCGGGTAGTTTCAGACTCTTGAGAAGATGAATGCAATGGTCAGAACCATACAGACTTGAATTTTGTGACATTAGTGGGCCAGCCCAAGCTTTAAATGAGGTGTGTGCACAAAAGCTCTGCCAACTAGATTCCTGA...
ATCTGTGACGGCTCTGAGGAGGAGAATGGGCGGCTTCTGGGCCAGATGGAGGAAGAGGGCATCCTCAGGCGGCTGAAGAAGTATGACAACTGGTAAGCTCGGCCCCCGCTGCCTGTCCCAGCACCCTGCAGGCAGGGCTCCCCTGCGTCTCCTGGGAGTTGGTGGAGAAAGGTGAATGAAGGCCTTCGGGTAGTTTCAGACTCTTGAGAAGATGAATGCAATGGTCAGAACCATACAGACTTGAATTTTGTGACATTAGTGGGCCAGCCCAAGCTTTAAATGAGGTGTGTGCACAAAAGCTCTGCCAACTAGATTCCTGA...
Task1_train_48060
This variant lies on Chromosome 20. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TGACAGTCTCTGATTAGCAATTTCCTCAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAACCATTCCAGGCCTTACACATCTCAGGATAAGGTCCCGCCCGCCACTCAAGGAGGAAGTGACAGGCAGACCTCATTTTATCTCACTTTACCTTATTGTACTTTGGTTTATTACACTTCATAGATATTGCACTCATTTTTCACAAGTTGAAGGTTTGTGGCACCCTGTGTGAAGCGAGTCTATCAGTGCCAATTTTTCCAGCAGCATATGCTCACTTCCTGTCTCTGCGTCACATTTTGGTAATCCTCACAATATT...
TGACAGTCTCTGATTAGCAATTTCCTCAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAACCATTCCAGGCCTTACACATCTCAGGATAAGGTCCCGCCCGCCACTCAAGGAGGAAGTGACAGGCAGACCTCATTTTATCTCACTTTACCTTATTGTACTTTGGTTTATTACACTTCATAGATATTGCACTCATTTTTCACAAGTTGAAGGTTTGTGGCACCCTGTGTGAAGCGAGTCTATCAGTGCCAATTTTTCCAGCAGCATATGCTCACTTCCTGTCTCTGCGTCACATTTTGGTAATCCTCACAATATT...
Task1_train_48061
This variant lies on Chromosome 20. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
AAGGAGGAAGTGACAGGCAGACCTCATTTTATCTCACTTTACCTTATTGTACTTTGGTTTATTACACTTCATAGATATTGCACTCATTTTTCACAAGTTGAAGGTTTGTGGCACCCTGTGTGAAGCGAGTCTATCAGTGCCAATTTTTCCAGCAGCATATGCTCACTTCCTGTCTCTGCGTCACATTTTGGTAATCCTCACAATATTTCACACTTTTTCATTTTGATTATATGTGTTATGGTGATCTGTGACCAGTGATCTTTGATGTTGCTATTATAATTGCTTTGCTTTGGGGTGCCACAAATATCACCTGTAGAAGA...
AAGGAGGAAGTGACAGGCAGACCTCATTTTATCTCACTTTACCTTATTGTACTTTGGTTTATTACACTTCATAGATATTGCACTCATTTTTCACAAGTTGAAGGTTTGTGGCACCCTGTGTGAAGCGAGTCTATCAGTGCCAATTTTTCCAGCAGCATATGCTCACTTCCTGTCTCTGCGTCACATTTTGGTAATCCTCACAATATTTCACACTTTTTCATTTTGATTATATGTGTTATGGTGATCTGTGACCAGTGATCTTTGATGTTGCTATTATAATTGCTTTGCTTTGGGGTGCCACAAATATCACCTGTAGAAGA...
Task1_train_48062
Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GCAAGCTCCGCCTCCCAGGTTTACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACATGTGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTTAGTAGAGAGAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACACCCAGAAGTGTGGCTATTTTTAAAAAACACAGTGCTGTGTTCTTTCCGGAAAGAGAAGTCTTCAATGGTCTGGCTTGAGACCCACAGGGCTCTGCAGACAGCCT...
GCAAGCTCCGCCTCCCAGGTTTACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACATGTGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTTAGTAGAGAGAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACACCCAGAAGTGTGGCTATTTTTAAAAAACACAGTGCTGTGTTCTTTCCGGAAAGAGAAGTCTTCAATGGTCTGGCTTGAGACCCACAGGGCTCTGCAGACAGCCT...
Task1_train_48063
A variant affecting Chromosome 20 has been observed. Determine if it's benign or associated with disease.
Benign
GGTAAGTGCTCAAAGTGCAACACCGCATTTCATCCAAACTAGGATGCCACAGGTGGTGAGATGCACCCCAGTTTCCAGCCTGTTAAAATGTGGGGGAAAGTAGCGTGTCTCAGAACAAATACGGTACTACAATAACCTCCCCTGTAGCATTCCGCGGAGGGAAAGGCAATTGAGTTGTTTCTCATGAAAAACACCGGACCCCATTGAAAATGAGGCATAAGGTCAGGCGCAACACAGAGATACCCCATCTTAATTTTAAAATTTTATTAGAAAAATAAAAATTAAATTAAACTTTAAAATGAGGTAGAAAGTATCAGAGT...
GGTAAGTGCTCAAAGTGCAACACCGCATTTCATCCAAACTAGGATGCCACAGGTGGTGAGATGCACCCCAGTTTCCAGCCTGTTAAAATGTGGGGGAAAGTAGCGTGTCTCAGAACAAATACGGTACTACAATAACCTCCCCTGTAGCATTCCGCGGAGGGAAAGGCAATTGAGTTGTTTCTCATGAAAAACACCGGACCCCATTGAAAATGAGGCATAAGGTCAGGCGCAACACAGAGATACCCCATCTTAATTTTAAAATTTTATTAGAAAAATAAAAATTAAATTAAACTTTAAAATGAGGTAGAAAGTATCAGAGT...
Task1_train_48064
A mutation on Chromosome 20 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
ATACCCCATCTTAATTTTAAAATTTTATTAGAAAAATAAAAATTAAATTAAACTTTAAAATGAGGTAGAAAGTATCAGAGTACAGGGAAATCAGGAGAGCTTTGATCCAGGTGTCCTCATTCTCAGGACGGCCGTAAAGGTGGACTGTGGGGGTCTGGAAGCAACCCTTTCCCCTTGGAGGGCAGAATCCCCCCACTCCCCATCCCTACCCTTTGCCCCCACCCAGAGGATCCGGTGGCTCCCCACCGAGGTCCCCTCCCTGGGCTCTCTTGGGTGACTTACCGTCCTCCCTGGAGACTGTCTGTCTTGTAATGATGTTC...
ATACCCCATCTTAATTTTAAAATTTTATTAGAAAAATAAAAATTAAATTAAACTTTAAAATGAGGTAGAAAGTATCAGAGTACAGGGAAATCAGGAGAGCTTTGATCCAGGTGTCCTCATTCTCAGGACGGCCGTAAAGGTGGACTGTGGGGGTCTGGAAGCAACCCTTTCCCCTTGGAGGGCAGAATCCCCCCACTCCCCATCCCTACCCTTTGCCCCCACCCAGAGGATCCGGTGGCTCCCCACCGAGGTCCCCTCCCTGGGCTCTCTTGGGTGACTTACCGTCCTCCCTGGAGACTGTCTGTCTTGTAATGATGTTC...
Task1_train_48065
A mutation on Chromosome 20 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TAGCCACTGTGAGTCACCCTACCTGTGTCTTTTGCTGCCTCCATGGCTGGGCCGCCATGATTGCTGGCTGGGAGGACCGCAGGGGCCCCACACTGCTCTCCCTAGGGGGCAGCCACAGCCCGGACCCCCGAGCACCTGCACCATTGCCCTTTTCCCTTGAGTAATGGCCGAGAAACAGCAGCCCATTGGGCCAGATCGGTCGTGTTTGGCTCCCATGACATTTTCAATATTTGAATTTGTCACTAGTGTTTAAAATCTGGTGGCTGTCACGCGTTATTCCTTCCTCACAGCAGCCCTAGGATGCTGAGACCCCCTCGGGC...
TAGCCACTGTGAGTCACCCTACCTGTGTCTTTTGCTGCCTCCATGGCTGGGCCGCCATGATTGCTGGCTGGGAGGACCGCAGGGGCCCCACACTGCTCTCCCTAGGGGGCAGCCACAGCCCGGACCCCCGAGCACCTGCACCATTGCCCTTTTCCCTTGAGTAATGGCCGAGAAACAGCAGCCCATTGGGCCAGATCGGTCGTGTTTGGCTCCCATGACATTTTCAATATTTGAATTTGTCACTAGTGTTTAAAATCTGGTGGCTGTCACGCGTTATTCCTTCCTCACAGCAGCCCTAGGATGCTGAGACCCCCTCGGGC...
Task1_train_48066
A genomic variant on Chromosome 20 is under review. What is the biological outcome — benign or pathogenic?
Benign
AAAAAAAATGGTAGCTGGTTTCCTTCTTCCACCTTTCTTCCACCTTCCTATCCTCTCATTGGTGACCAAAGCCTTTAAAAATATATTTATTTTTAATAGGTAACCTTGATACCTAAAAGGGCATCTGATGAGATGCCTCCCTCCCTCTGGACCCCTGGAGCCACTGTCACCCATTTGTCACGCACTCTTGCATAGACAAGGACATCCATGGGCCTCTGGCCTCATTTTCTTATTACACAGCTTGTACCATACTTTGAATAGTTTTGTGCACCTCTTTTCTCTTAGAAGTTTGTCTCATCCTTCTAAACCATTGCATGGCA...
AAAAAAAATGGTAGCTGGTTTCCTTCTTCCACCTTTCTTCCACCTTCCTATCCTCTCATTGGTGACCAAAGCCTTTAAAAATATATTTATTTTTAATAGGTAACCTTGATACCTAAAAGGGCATCTGATGAGATGCCTCCCTCCCTCTGGACCCCTGGAGCCACTGTCACCCATTTGTCACGCACTCTTGCATAGACAAGGACATCCATGGGCCTCTGGCCTCATTTTCTTATTACACAGCTTGTACCATACTTTGAATAGTTTTGTGCACCTCTTTTCTCTTAGAAGTTTGTCTCATCCTTCTAAACCATTGCATGGCA...
Task1_train_48067
Mutation context: Chromosome 20. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
GAGCTATTTTTTTCCTCGACTATTATTTGTCTAACAGAGTGCTGAGCTGGGTACAGCCACGTACACTGAGTGTAAAACCACATCATCAACACAGATCTTACTTGCTATGACAGCAGGAAATGCAGCCAGTTAATTTAAAAGCTGACTCCAGTTCTTGGGATGGAAGTGGGAAAGGGTGGCCAGGATACAGCGCCATTTCCCATTCCCAGGAAAACTGCAATGGTCACAAGACTACTGCCACACATTTTGATTCCAAAAGTTGCTTAGAAGGTAGAGCTTTAGAGAACATAAATGGTCTGTGGGAGGTGGGAGAGTGGACC...
GAGCTATTTTTTTCCTCGACTATTATTTGTCTAACAGAGTGCTGAGCTGGGTACAGCCACGTACACTGAGTGTAAAACCACATCATCAACACAGATCTTACTTGCTATGACAGCAGGAAATGCAGCCAGTTAATTTAAAAGCTGACTCCAGTTCTTGGGATGGAAGTGGGAAAGGGTGGCCAGGATACAGCGCCATTTCCCATTCCCAGGAAAACTGCAATGGTCACAAGACTACTGCCACACATTTTGATTCCAAAAGTTGCTTAGAAGGTAGAGCTTTAGAGAACATAAATGGTCTGTGGGAGGTGGGAGAGTGGACC...
Task1_train_48068
A genomic change on Chromosome 20 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
ACACACATCTGGCTTGTTGCTGTTCTCATCCCGAGCACATAGCTCAGTGCCTGCAGAAGACAGGCACTCAGGAAATGACGCAATGGGCAGCCTGACTCATGGACAGATTTCACTTCGATTAAATTCCCCACCGCCTCCTGCAGATGGATGGGCTAATGACAGGTGTCCAATATGGAGTTGTTGAATTGAATCAAATTCTGGATAACAAATATGACACAGAAAACAAGGCAATTCAATTAAATTCAGCTGACATTTCAGTAGCCAGTTTTTATGAGCTCCGGCTGGTTGGTGAGGTAAAGTTTTAAATAGGCTCTTAGAAC...
ACACACATCTGGCTTGTTGCTGTTCTCATCCCGAGCACATAGCTCAGTGCCTGCAGAAGACAGGCACTCAGGAAATGACGCAATGGGCAGCCTGACTCATGGACAGATTTCACTTCGATTAAATTCCCCACCGCCTCCTGCAGATGGATGGGCTAATGACAGGTGTCCAATATGGAGTTGTTGAATTGAATCAAATTCTGGATAACAAATATGACACAGAAAACAAGGCAATTCAATTAAATTCAGCTGACATTTCAGTAGCCAGTTTTTATGAGCTCCGGCTGGTTGGTGAGGTAAAGTTTTAAATAGGCTCTTAGAAC...
Task1_train_48069
Given this context: Chromosome 20 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CACACCCATTCATCCACCCTCCCTCCATCTGCTCGTTTGTGCACTCAAGAAATACGCATTGGGTGCCTTGTACAGAAGTTTTTCACCTCGAATGCTAACCTCAACTTCATTTTCACTAACCTTTCACTAATAAAAGTTAACATTTCTTCTCATTGTAAATGGAGGCAACGAGCCCCAGTAGCGTCAGCAGAACCTCTGACCTTGTATGACACTAACAGCATTGCAGGTACTGGAAACATGGTTTGCAGTCGTCCCTGCTTTGAAATGAGGGCAAATAAAGATTTCACATTTATCGTTTCTCTATATCACAAATTAGCGTT...
CACACCCATTCATCCACCCTCCCTCCATCTGCTCGTTTGTGCACTCAAGAAATACGCATTGGGTGCCTTGTACAGAAGTTTTTCACCTCGAATGCTAACCTCAACTTCATTTTCACTAACCTTTCACTAATAAAAGTTAACATTTCTTCTCATTGTAAATGGAGGCAACGAGCCCCAGTAGCGTCAGCAGAACCTCTGACCTTGTATGACACTAACAGCATTGCAGGTACTGGAAACATGGTTTGCAGTCGTCCCTGCTTTGAAATGAGGGCAAATAAAGATTTCACATTTATCGTTTCTCTATATCACAAATTAGCGTT...
Task1_train_48070
A variant on Chromosome 20 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
GGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGCAATTACAGGCATGTGCCACCATGCCCGGCCAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGTCATGTTGGCCAGGCTGATTTTGAACTCCTGACCTCAATCAATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCCAGCCCATTTTCTTGATATTTTTTTGTACCAGGGCTGTTGGAGCAGAGGAAACATGTTATCACCCAGCAAGGAAATAATTCCCTTTTCTTTTCTTCCATCTTTTTGATAATGTTGAGGGGAAATTC...
GGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGCAATTACAGGCATGTGCCACCATGCCCGGCCAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGTCATGTTGGCCAGGCTGATTTTGAACTCCTGACCTCAATCAATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCCAGCCCATTTTCTTGATATTTTTTTGTACCAGGGCTGTTGGAGCAGAGGAAACATGTTATCACCCAGCAAGGAAATAATTCCCTTTTCTTTTCTTCCATCTTTTTGATAATGTTGAGGGGAAATTC...
Task1_train_48071
A mutation located on Chromosome 20 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
CAAGTCCACACAGCCACTGGCCATGGGGCACCCTGCAGGGCCTCTGGACACGGAGACCTGTGGTTCTCAGCCAGTGGTGATTTTGTGTCCAGGGAACACCTGGCCAAGTCTGGGTTCAATTTTGTTTGTCACAGTTTAAGGTTGGGGTGTCACTAGACATCCTACAGTGCACAGGACGGCCCCACAGCAGACCAGCCCGACTGTCAGCAGCACCGAGCCGGGAAAGCCTGGTCTGGAGCCGTTTCTCTCTAGGGTCCCTGCTAGGGAACCCCTCACTGCCATGGAGAACCCCTCTCCTCCTGTCTCTCAGGACTCTCCGA...
CAAGTCCACACAGCCACTGGCCATGGGGCACCCTGCAGGGCCTCTGGACACGGAGACCTGTGGTTCTCAGCCAGTGGTGATTTTGTGTCCAGGGAACACCTGGCCAAGTCTGGGTTCAATTTTGTTTGTCACAGTTTAAGGTTGGGGTGTCACTAGACATCCTACAGTGCACAGGACGGCCCCACAGCAGACCAGCCCGACTGTCAGCAGCACCGAGCCGGGAAAGCCTGGTCTGGAGCCGTTTCTCTCTAGGGTCCCTGCTAGGGAACCCCTCACTGCCATGGAGAACCCCTCTCCTCCTGTCTCTCAGGACTCTCCGA...
Task1_train_48072
This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease?
Benign
ACACCTGGCCAAGTCTGGGTTCAATTTTGTTTGTCACAGTTTAAGGTTGGGGTGTCACTAGACATCCTACAGTGCACAGGACGGCCCCACAGCAGACCAGCCCGACTGTCAGCAGCACCGAGCCGGGAAAGCCTGGTCTGGAGCCGTTTCTCTCTAGGGTCCCTGCTAGGGAACCCCTCACTGCCATGGAGAACCCCTCTCCTCCTGTCTCTCAGGACTCTCCGAGGGTCAAGGATGGATGCCTCCCCATCGAGGGCCAAACAAACTGACAAATCGAGTGGGCAAACGGCTTACTCAAAGGCCAGGAGCAGCTACCCGAT...
ACACCTGGCCAAGTCTGGGTTCAATTTTGTTTGTCACAGTTTAAGGTTGGGGTGTCACTAGACATCCTACAGTGCACAGGACGGCCCCACAGCAGACCAGCCCGACTGTCAGCAGCACCGAGCCGGGAAAGCCTGGTCTGGAGCCGTTTCTCTCTAGGGTCCCTGCTAGGGAACCCCTCACTGCCATGGAGAACCCCTCTCCTCCTGTCTCTCAGGACTCTCCGAGGGTCAAGGATGGATGCCTCCCCATCGAGGGCCAAACAAACTGACAAATCGAGTGGGCAAACGGCTTACTCAAAGGCCAGGAGCAGCTACCCGAT...
Task1_train_48073
With a mutation on Chromosome 20, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ACGCACCCTCAATACCCACGGTCACCCTGGAAGCCGCTACATTCTGGCTGGTAGAGTCGTGGACCCTCTTCTCCTTGGATCAGATGCTTGTTTTTGATGTCGGCTTGTTGTGGACCAATGTGAGAAGATGAGCTTCCTGGGAATTCATTCGTTTGCTTGTGGCACTAACTCTAGTCACTTAGGGAAAATATCGTTGCACCTGACTTCATCTCATGTGGCTGTGGGTAGACCTGTGCAGTTAGTCAGCTCCCGGCCTGGAAATTAACACAAAGGAAAAACCTGACCACACAGGCCTTCCCTAGAGGCCACAGCTGCACAGC...
ACGCACCCTCAATACCCACGGTCACCCTGGAAGCCGCTACATTCTGGCTGGTAGAGTCGTGGACCCTCTTCTCCTTGGATCAGATGCTTGTTTTTGATGTCGGCTTGTTGTGGACCAATGTGAGAAGATGAGCTTCCTGGGAATTCATTCGTTTGCTTGTGGCACTAACTCTAGTCACTTAGGGAAAATATCGTTGCACCTGACTTCATCTCATGTGGCTGTGGGTAGACCTGTGCAGTTAGTCAGCTCCCGGCCTGGAAATTAACACAAAGGAAAAACCTGACCACACAGGCCTTCCCTAGAGGCCACAGCTGCACAGC...
Task1_train_48074
A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless?
Benign
CAATTGCACCGTGCAAAATTTATCGTGTTCTCTTTGCTGCTGTGAAATTACTTTTACTAATATGAGATGCATTAAAAGTGAGGTTTTGAAACACCTACATTCATCATCCATCAATGACACTTGGGTTGTTTCTGCCTTTTGGCTACTGTGAGTAATGCTGCCAGGAAACAACTAAGGCTTTTAAATGCAGGCGTTTTAAACCGGGGGCAAGGAACATTACTGCTTGAAAAGAAGTCACCATTCCTCCATGCCTCAGGGGTAAGACATTCATAACTCACACACAGAGAAGTGGGAGGCAGGAGCCCTGCTGCTCTGAAGCT...
CAATTGCACCGTGCAAAATTTATCGTGTTCTCTTTGCTGCTGTGAAATTACTTTTACTAATATGAGATGCATTAAAAGTGAGGTTTTGAAACACCTACATTCATCATCCATCAATGACACTTGGGTTGTTTCTGCCTTTTGGCTACTGTGAGTAATGCTGCCAGGAAACAACTAAGGCTTTTAAATGCAGGCGTTTTAAACCGGGGGCAAGGAACATTACTGCTTGAAAAGAAGTCACCATTCCTCCATGCCTCAGGGGTAAGACATTCATAACTCACACACAGAGAAGTGGGAGGCAGGAGCCCTGCTGCTCTGAAGCT...
Task1_train_48075
A mutation found on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
AATTGCACCGTGCAAAATTTATCGTGTTCTCTTTGCTGCTGTGAAATTACTTTTACTAATATGAGATGCATTAAAAGTGAGGTTTTGAAACACCTACATTCATCATCCATCAATGACACTTGGGTTGTTTCTGCCTTTTGGCTACTGTGAGTAATGCTGCCAGGAAACAACTAAGGCTTTTAAATGCAGGCGTTTTAAACCGGGGGCAAGGAACATTACTGCTTGAAAAGAAGTCACCATTCCTCCATGCCTCAGGGGTAAGACATTCATAACTCACACACAGAGAAGTGGGAGGCAGGAGCCCTGCTGCTCTGAAGCTG...
AATTGCACCGTGCAAAATTTATCGTGTTCTCTTTGCTGCTGTGAAATTACTTTTACTAATATGAGATGCATTAAAAGTGAGGTTTTGAAACACCTACATTCATCATCCATCAATGACACTTGGGTTGTTTCTGCCTTTTGGCTACTGTGAGTAATGCTGCCAGGAAACAACTAAGGCTTTTAAATGCAGGCGTTTTAAACCGGGGGCAAGGAACATTACTGCTTGAAAAGAAGTCACCATTCCTCCATGCCTCAGGGGTAAGACATTCATAACTCACACACAGAGAAGTGGGAGGCAGGAGCCCTGCTGCTCTGAAGCTG...
Task1_train_48076
This mutation occurs on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Benign
CACAGATAAGACTCCATCAAAAAAAAAAAAAAAAAAGGCGCTAATTACTTAAAATCATGCACAGAGGTCCAAGTTATGGGCTGTTTGGAAAAGTTCATGAAAAGAAATCCCCAAAGTGAAATGAGTTATTACTGTGAAATCAGATAAGAATTCAGTTTATTTTCCTTTAATGGAATCTACACTTTACTAGCTTGGAGCATTATAAGGAGAAATTAGAGCTATATTGACATTAAATTCTAAAACAACAGCTTTAATGTATATAATGGCATGAATTTAATAGGAGGAAAATCCAATTTAGTACTTTGTGTTTGACATTTTAT...
CACAGATAAGACTCCATCAAAAAAAAAAAAAAAAAAGGCGCTAATTACTTAAAATCATGCACAGAGGTCCAAGTTATGGGCTGTTTGGAAAAGTTCATGAAAAGAAATCCCCAAAGTGAAATGAGTTATTACTGTGAAATCAGATAAGAATTCAGTTTATTTTCCTTTAATGGAATCTACACTTTACTAGCTTGGAGCATTATAAGGAGAAATTAGAGCTATATTGACATTAAATTCTAAAACAACAGCTTTAATGTATATAATGGCATGAATTTAATAGGAGGAAAATCCAATTTAGTACTTTGTGTTTGACATTTTAT...
Task1_train_48077
Here is a mutation located on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
ACATCCGGTCCCACACGGGTGAGAGGCCCTTCCCGTGTGCCACCTGCGGCATCGCCTTTAAGACCCAGAGCAATCTCTACAAGCACAGGCGGACGCAGACGCACCTCAACAACTCCCGGCTGTCCTCAGAGTCCGAGGGCGCCGGGGGCGGCCTCCTGGAGGAAGGGGACAAGGCCGGAGAGCCCCCCAGACCAGAGGGCAGGGGCGAGAGCAGGTGCCAGGGGATGCACGAAGGCGCCTCGGAGAGACCCCTTTCTCCGGGTGCCCACGTGCCCCTACTTGCCAAGAACCTGGATGTGAGGACCGAAGCTGCTCCCTGT...
ACATCCGGTCCCACACGGGTGAGAGGCCCTTCCCGTGTGCCACCTGCGGCATCGCCTTTAAGACCCAGAGCAATCTCTACAAGCACAGGCGGACGCAGACGCACCTCAACAACTCCCGGCTGTCCTCAGAGTCCGAGGGCGCCGGGGGCGGCCTCCTGGAGGAAGGGGACAAGGCCGGAGAGCCCCCCAGACCAGAGGGCAGGGGCGAGAGCAGGTGCCAGGGGATGCACGAAGGCGCCTCGGAGAGACCCCTTTCTCCGGGTGCCCACGTGCCCCTACTTGCCAAGAACCTGGATGTGAGGACCGAAGCTGCTCCCTGT...
Task1_train_48078
Here is a mutation located on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
GGGCGCCGGGGGCGGCCTCCTGGAGGAAGGGGACAAGGCCGGAGAGCCCCCCAGACCAGAGGGCAGGGGCGAGAGCAGGTGCCAGGGGATGCACGAAGGCGCCTCGGAGAGACCCCTTTCTCCGGGTGCCCACGTGCCCCTACTTGCCAAGAACCTGGATGTGAGGACCGAAGCTGCTCCCTGTCCAGGGTCCGCATTTGCCGACAGAGAGGCTCCTTGGGACTCTGCCCCCATGGCGTCACCTGGGCTCCCAGCGGCCAGCACACAACCCTGGCGTAAGTTGCCAGAGCAGAAGTCGCCGACCGCCGGGAAGCCGTGCG...
GGGCGCCGGGGGCGGCCTCCTGGAGGAAGGGGACAAGGCCGGAGAGCCCCCCAGACCAGAGGGCAGGGGCGAGAGCAGGTGCCAGGGGATGCACGAAGGCGCCTCGGAGAGACCCCTTTCTCCGGGTGCCCACGTGCCCCTACTTGCCAAGAACCTGGATGTGAGGACCGAAGCTGCTCCCTGTCCAGGGTCCGCATTTGCCGACAGAGAGGCTCCTTGGGACTCTGCCCCCATGGCGTCACCTGGGCTCCCAGCGGCCAGCACACAACCCTGGCGTAAGTTGCCAGAGCAGAAGTCGCCGACCGCCGGGAAGCCGTGCG...
Task1_train_48079
Given this variant on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
ATACACAGTTAGGCTTGACTTTTCAGACTGCACATGTGTACCTTTCATCAAAATAAAAGCAAATTTAAAAGTGGGTCTAGTGCTTCTTCTCTAGTGACACAGTCGTTTTAAGATATTTCTCTGATCTCATATCATGATGGAACCTGCCCTCTCTGAAATTTTGTGATCCTTTTGACTGGTATGCCAGGTCATCAGTGCGGGTGAAGGATGAAGGAAAGACAGGTATGAGAAGTGCTGTTTTGTGGATATTGTCAGGGCCCTTCTTTCCTTCCACAATCACAACAATAACCACCACAACAAAACAACAGCATCACAAAAGC...
ATACACAGTTAGGCTTGACTTTTCAGACTGCACATGTGTACCTTTCATCAAAATAAAAGCAAATTTAAAAGTGGGTCTAGTGCTTCTTCTCTAGTGACACAGTCGTTTTAAGATATTTCTCTGATCTCATATCATGATGGAACCTGCCCTCTCTGAAATTTTGTGATCCTTTTGACTGGTATGCCAGGTCATCAGTGCGGGTGAAGGATGAAGGAAAGACAGGTATGAGAAGTGCTGTTTTGTGGATATTGTCAGGGCCCTTCTTTCCTTCCACAATCACAACAATAACCACCACAACAAAACAACAGCATCACAAAAGC...
Task1_train_48080
Given this context: Chromosome 20 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
GAAGGAGGGTCACAGAGTTAGGAAACGGTGTGTGCAAAGGCCCTGAGGCGGGGCTGTGTCTGGTCCGCTCTTGGAACGGCTGTGCGTGAAGCCTCATGAACAAGGGTAGCCATTGTGCAAACGCTCGTCCCATAGCAGGTGAAGACAGGACGTGGACACCCCCCTGCCAGCCTCCCCCAGCCAGCGCTGCCTCCCCTGCCAGGGTCCACAGAGCCCGGGCTGTGTAGCTGTGCAGCTGTGCAGCTGCCTGTGAGCCCAGGGCTCTGGTCAGGGGAAGCGTCTCCCCTTGAGGGTCCCCTGCCGCAGCTCAAGCCCTGAGG...
GAAGGAGGGTCACAGAGTTAGGAAACGGTGTGTGCAAAGGCCCTGAGGCGGGGCTGTGTCTGGTCCGCTCTTGGAACGGCTGTGCGTGAAGCCTCATGAACAAGGGTAGCCATTGTGCAAACGCTCGTCCCATAGCAGGTGAAGACAGGACGTGGACACCCCCCTGCCAGCCTCCCCCAGCCAGCGCTGCCTCCCCTGCCAGGGTCCACAGAGCCCGGGCTGTGTAGCTGTGCAGCTGTGCAGCTGCCTGTGAGCCCAGGGCTCTGGTCAGGGGAAGCGTCTCCCCTTGAGGGTCCCCTGCCGCAGCTCAAGCCCTGAGG...
Task1_train_48081
Assess the clinical impact of this variant found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
CTGAAGGCACTGCCTCCCGGCTGTGGCAGCAGGCACCACCTCACCCAGTGTGCCCTTGGAAGAGTGTTCATATGTGACTGCTGGTGAGGAAGGCACGTTTTACTTGGAAGAGCTGCTTCATGAGAATAGGGCTGCGGCACCTCAGGGTCTGCCAGTTCAGCCCATGGCCCAGAGAGAGAGGCAGGTGCCTTCCAAAAGGTAAACCCGCCAGGCATAGAGGCTCATGCCTGTAATCCCAGCATTTAAGGAGGCCAAGTCAGGAGGATCACTTGAGGCAAGGAGTTTAGGACCAGCCTGGGCTACATCGCGAGTCCCTGTCC...
CTGAAGGCACTGCCTCCCGGCTGTGGCAGCAGGCACCACCTCACCCAGTGTGCCCTTGGAAGAGTGTTCATATGTGACTGCTGGTGAGGAAGGCACGTTTTACTTGGAAGAGCTGCTTCATGAGAATAGGGCTGCGGCACCTCAGGGTCTGCCAGTTCAGCCCATGGCCCAGAGAGAGAGGCAGGTGCCTTCCAAAAGGTAAACCCGCCAGGCATAGAGGCTCATGCCTGTAATCCCAGCATTTAAGGAGGCCAAGTCAGGAGGATCACTTGAGGCAAGGAGTTTAGGACCAGCCTGGGCTACATCGCGAGTCCCTGTCC...
Task1_train_48082
This alteration on Chromosome 20 may affect genome function. Does it lead to a disease or is it benign?
Benign
AAGGCCCCAGGCAGGCAGGTGGGCTCCTCCTCCCCTTGCCCTGGGGCTCCCCTGCTCCAGGGCCTGTAGAGCTCCTGTCGGGAGCGGCCTCCTAGGGCTGAGTGACCCAGCACGCTGTAGTGGAGCCAAAAGGCACTGCTTTTTCCTTGGGTGCCAGCCTCTGAGAAAAGGCCTTTTTATGAAAAGCAGCAGGCGTGGTGGGCTCAGTTCTGTGCCTCCCTGCAGACAGAGGCAGCTGGTCACAGGGCGGGTGTCGCCTCTTCTCAGTCCCCTCCCATACCCCCTCTCTCCTCTCTCGCCTCCCGTTGGGTCTCCGCGGG...
AAGGCCCCAGGCAGGCAGGTGGGCTCCTCCTCCCCTTGCCCTGGGGCTCCCCTGCTCCAGGGCCTGTAGAGCTCCTGTCGGGAGCGGCCTCCTAGGGCTGAGTGACCCAGCACGCTGTAGTGGAGCCAAAAGGCACTGCTTTTTCCTTGGGTGCCAGCCTCTGAGAAAAGGCCTTTTTATGAAAAGCAGCAGGCGTGGTGGGCTCAGTTCTGTGCCTCCCTGCAGACAGAGGCAGCTGGTCACAGGGCGGGTGTCGCCTCTTCTCAGTCCCCTCCCATACCCCCTCTCTCCTCTCTCGCCTCCCGTTGGGTCTCCGCGGG...
Task1_train_48083
A change on Chromosome 20 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
TTAAAGCAGAATGGCCAAGGACCCCACAGAGATAGTGACCCCCCCAAAGGAGGTGGCACCTTTTCAGAGGAGTGAGGCTGGGGAGAGGGAGGCGTCCGAGGCACTGCGAGGGAGGAGGCAGGCGGTGTCCCCTCGTTGTGCTCCCGCTCTGGCCCCGTGTTGAGTTTTCAGCCGTCCACTGGGGCCCCTTCTGTACACATCTTTTGTAGTCAGGATGGGGAGCACCTTGTAAGGTCCCTCCTGTGCGACCTGCTGAAGACTGGGGAGCTCTGGGAGCAGGCAGGTATTTGTGCTCATGGTGAAGGGAGAGGGGCTGTCCT...
TTAAAGCAGAATGGCCAAGGACCCCACAGAGATAGTGACCCCCCCAAAGGAGGTGGCACCTTTTCAGAGGAGTGAGGCTGGGGAGAGGGAGGCGTCCGAGGCACTGCGAGGGAGGAGGCAGGCGGTGTCCCCTCGTTGTGCTCCCGCTCTGGCCCCGTGTTGAGTTTTCAGCCGTCCACTGGGGCCCCTTCTGTACACATCTTTTGTAGTCAGGATGGGGAGCACCTTGTAAGGTCCCTCCTGTGCGACCTGCTGAAGACTGGGGAGCTCTGGGAGCAGGCAGGTATTTGTGCTCATGGTGAAGGGAGAGGGGCTGTCCT...
Task1_train_48084
This is a variant located on Chromosome 20. Is this mutation a likely cause of disease or not?
Benign
TTAAAGGCTCACGGGCCACAGCGAAGGGTGCTACCTTCCCTCCCTCCATCTTCCTCCCAGCGTCCTCATCCTGCACCCTCAGTCCCCCCTCCAGGCCTTTGTCCAGGACAGCTCCTCTCCCAAAGATGCCTTCGCTCCAGGGCTCATCCCTTCTAGCAGCCCCTCCAGCCTAGCTCCAGCCAGCTAGCCCAATCCCTCCCCTCTGGTCACTGCAGTCCCTTTGCCACCCAGACCCTGCACACGCTGGGCATGGCCATGATCCTCCCTGGGTCCCAAGTTTTGCTGGGGTGCAACCCTGCTCCTGACCAAGAAAGATGAGG...
TTAAAGGCTCACGGGCCACAGCGAAGGGTGCTACCTTCCCTCCCTCCATCTTCCTCCCAGCGTCCTCATCCTGCACCCTCAGTCCCCCCTCCAGGCCTTTGTCCAGGACAGCTCCTCTCCCAAAGATGCCTTCGCTCCAGGGCTCATCCCTTCTAGCAGCCCCTCCAGCCTAGCTCCAGCCAGCTAGCCCAATCCCTCCCCTCTGGTCACTGCAGTCCCTTTGCCACCCAGACCCTGCACACGCTGGGCATGGCCATGATCCTCCCTGGGTCCCAAGTTTTGCTGGGGTGCAACCCTGCTCCTGACCAAGAAAGATGAGG...
Task1_train_48085
A genetic alteration is present on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GATGCAGGGTGTGACCCCTGCCATCCGTGTGGGGGCCCCCAGGGGCCTCCCGTGCAGCCTCAGTCTCTTCACACAGCCGCTGAACCCGACGGTCACCTATAGGAGCAGACCGGGCAGGGATCAGGGCCCAGGGCAGCTGAAAGGGAACAGTGGGTGGGGAGTGGGGGCTGGGGCAAGATGGTTCTCACCGGAAGTTTGGAGCTGTGGCTGCTGGCCGGGAGGCCGCCCACAAAGAGGGTGTGGGGCTGGGGGTGCTCTGCCCCCTGGTGCTGCCGGTGCGGCCCCTCCTGGCTCCAGGCCCGGGCCCCGTCCGTCACCAG...
GATGCAGGGTGTGACCCCTGCCATCCGTGTGGGGGCCCCCAGGGGCCTCCCGTGCAGCCTCAGTCTCTTCACACAGCCGCTGAACCCGACGGTCACCTATAGGAGCAGACCGGGCAGGGATCAGGGCCCAGGGCAGCTGAAAGGGAACAGTGGGTGGGGAGTGGGGGCTGGGGCAAGATGGTTCTCACCGGAAGTTTGGAGCTGTGGCTGCTGGCCGGGAGGCCGCCCACAAAGAGGGTGTGGGGCTGGGGGTGCTCTGCCCCCTGGTGCTGCCGGTGCGGCCCCTCCTGGCTCCAGGCCCGGGCCCCGTCCGTCACCAG...
Task1_train_48086
A variant found on Chromosome 20 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
CGGGCAGGGATCAGGGCCCAGGGCAGCTGAAAGGGAACAGTGGGTGGGGAGTGGGGGCTGGGGCAAGATGGTTCTCACCGGAAGTTTGGAGCTGTGGCTGCTGGCCGGGAGGCCGCCCACAAAGAGGGTGTGGGGCTGGGGGTGCTCTGCCCCCTGGTGCTGCCGGTGCGGCCCCTCCTGGCTCCAGGCCCGGGCCCCGTCCGTCACCAGCAGGATCCGGTTCTTCTCCCAGCGCACGGAGACCTGGGGGCAGGAGATGGGTCAGGGTAGGGCTGCCAGGCCCTGCCCACCACCTTCCTTCTTCTCGGCCCTCACCTTGT...
CGGGCAGGGATCAGGGCCCAGGGCAGCTGAAAGGGAACAGTGGGTGGGGAGTGGGGGCTGGGGCAAGATGGTTCTCACCGGAAGTTTGGAGCTGTGGCTGCTGGCCGGGAGGCCGCCCACAAAGAGGGTGTGGGGCTGGGGGTGCTCTGCCCCCTGGTGCTGCCGGTGCGGCCCCTCCTGGCTCCAGGCCCGGGCCCCGTCCGTCACCAGCAGGATCCGGTTCTTCTCCCAGCGCACGGAGACCTGGGGGCAGGAGATGGGTCAGGGTAGGGCTGCCAGGCCCTGCCCACCACCTTCCTTCTTCTCGGCCCTCACCTTGT...
Task1_train_48087
Mutation context: Chromosome 20. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
GCCAGTGCCTGGTTCTCCTCCCAGAGGCTGCTCAGCTGCTCCTGCACCCGGGCCAGCACTAGCCGAGACCAGGGTGAGGGTGGTCACTCTGGAAGCCAGGCCCCTTCATGACCCCTGGTCTCCACTTGGTGCCCGCCAGATCCATCTGCCCCGTGATGCCCACCTGATGCCACTCCATGCTGACCTCCCCCTTGGAGCTCCCAGGTCCCTGCCTCTCCCCACCCCGCCTGCCAGGGACAACACCACTCACATCTCTGTGCTGCAGCCAACTCAGCCTCAGCTGCTGCCTGCGGGGCCCCCAGGTCCCGGGCCCGCATCTC...
GCCAGTGCCTGGTTCTCCTCCCAGAGGCTGCTCAGCTGCTCCTGCACCCGGGCCAGCACTAGCCGAGACCAGGGTGAGGGTGGTCACTCTGGAAGCCAGGCCCCTTCATGACCCCTGGTCTCCACTTGGTGCCCGCCAGATCCATCTGCCCCGTGATGCCCACCTGATGCCACTCCATGCTGACCTCCCCCTTGGAGCTCCCAGGTCCCTGCCTCTCCCCACCCCGCCTGCCAGGGACAACACCACTCACATCTCTGTGCTGCAGCCAACTCAGCCTCAGCTGCTGCCTGCGGGGCCCCCAGGTCCCGGGCCCGCATCTC...
Task1_train_48088
This variant is located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Benign
TCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCA...
TCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCA...
Task1_train_48089
This variant is located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Benign
CTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCAGGGGAGAATGATCAGCTGGGGCCCTGGGGTCATTAGGGTGGGGAGGGCTCA...
CTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCAGGGGAGAATGATCAGCTGGGGCCCTGGGGTCATTAGGGTGGGGAGGGCTCA...
Task1_train_48090
This sequence variant lies on Chromosome 20. Is it clinically significant, and what condition might it cause if any?
Benign
CTGCAGGTGTCGCAGCGCTCCCCGCTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTC...
CTGCAGGTGTCGCAGCGCTCCCCGCTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTC...
Task1_train_48091
A mutation on Chromosome 20 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTCCACAAGCACACGGGCGGCAGCCCC...
CTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTCCACAAGCACACGGGCGGCAGCCCC...
Task1_train_48092
Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CCACAAACCTCCTCATACAGAAGGAGCAAAGTTACAGCAGACAGACAGATTAGCAGGGCAGATTAGCAGCTGGACAGACACACAGTGGGCGAGGGATGGGCAGAATGACAGGCAGACGCCAGGATGGTCGGTGGGGGATGTCCAGGTGACCCAGTGGTGGGGGCTGGGGTAGGTGGGAAAGGGGTATGGAGGGTGTGTGCATGGAGGGGCAGGCGGATGAGGGGCAGGCAGGCGGACGAGGGGCAGGCAGACAGGCAGCAGGGGACAGGCAGGCCCATGAGTTGGCCAGCAGCCTGTGAAAAGCAGGGGCAGGAAGAGAG...
CCACAAACCTCCTCATACAGAAGGAGCAAAGTTACAGCAGACAGACAGATTAGCAGGGCAGATTAGCAGCTGGACAGACACACAGTGGGCGAGGGATGGGCAGAATGACAGGCAGACGCCAGGATGGTCGGTGGGGGATGTCCAGGTGACCCAGTGGTGGGGGCTGGGGTAGGTGGGAAAGGGGTATGGAGGGTGTGTGCATGGAGGGGCAGGCGGATGAGGGGCAGGCAGGCGGACGAGGGGCAGGCAGACAGGCAGCAGGGGACAGGCAGGCCCATGAGTTGGCCAGCAGCCTGTGAAAAGCAGGGGCAGGAAGAGAG...
Task1_train_48093
A mutation on Chromosome 20 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GCCTCGCAGTCTGGTGCTGTCCTAACCTCACCTGGCATGAGTCCCCCCGGTAGCTGGCGGGGCACAGGCACAGCTCCACATTGCTGGCCAGGGCCCCCTGGCCTGCTGGGCTGGCCACCTCCAGTGCCACCCTGCGCAGGAAGACAGCCGAGGAGATCTGTGAGAAGAGGGCACGGATCTGCAGCTGCTCCAGGCTGGCCAGCACCATCATGAGCTCCTCGCGGGACACAGTGTTGCGCGTCTCCGTATGCCGGAAGTTCCCCTGTGGGTCCAGGATGGCACCTCAGTGGGGCCACACTCAATGGGACAGAACAGGGAGC...
GCCTCGCAGTCTGGTGCTGTCCTAACCTCACCTGGCATGAGTCCCCCCGGTAGCTGGCGGGGCACAGGCACAGCTCCACATTGCTGGCCAGGGCCCCCTGGCCTGCTGGGCTGGCCACCTCCAGTGCCACCCTGCGCAGGAAGACAGCCGAGGAGATCTGTGAGAAGAGGGCACGGATCTGCAGCTGCTCCAGGCTGGCCAGCACCATCATGAGCTCCTCGCGGGACACAGTGTTGCGCGTCTCCGTATGCCGGAAGTTCCCCTGTGGGTCCAGGATGGCACCTCAGTGGGGCCACACTCAATGGGACAGAACAGGGAGC...
Task1_train_48094
Consider a variant on Chromosome 20. Determine its clinical classification and disease relevance.
Benign
GGGATGACTCTCCCAAAAGCTTCTAGGAAGCCCCAGCTGCCCCGAAAGGCCCGTAAGGACACTTTCAGCTGATGAGGCCGGAGGGAGAGGCCAGATCTGGGCCCAGCCCTCACTCACCTTACAGTAGCACTGCCCTGTGAGGGGGTCACACACGCCAGGCGCAGTGCCCGCCTCGTGACAGTCACAGGGGCGGCAGCGGGGGTAGCCATGGAAGCCCGGAGAGCAGGTATCACAGCGGCGCCCAGTCACGTTGGGTCTGCACCTGTGGCAGGGGCGGGAGCTGAGCCCCCTCCACCCCAGGTCACTCACACCAAAGTGAG...
GGGATGACTCTCCCAAAAGCTTCTAGGAAGCCCCAGCTGCCCCGAAAGGCCCGTAAGGACACTTTCAGCTGATGAGGCCGGAGGGAGAGGCCAGATCTGGGCCCAGCCCTCACTCACCTTACAGTAGCACTGCCCTGTGAGGGGGTCACACACGCCAGGCGCAGTGCCCGCCTCGTGACAGTCACAGGGGCGGCAGCGGGGGTAGCCATGGAAGCCCGGAGAGCAGGTATCACAGCGGCGCCCAGTCACGTTGGGTCTGCACCTGTGGCAGGGGCGGGAGCTGAGCCCCCTCCACCCCAGGTCACTCACACCAAAGTGAG...
Task1_train_48095
This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Benign
GTCGACCCGTCCACCTTGGGCTCTGGCACCAACTCCCTGCCACTGGGCGCCCAAGGACTGGGGTACTCACGCCTGCAGTTGGGGAAGCCCCAGTATCCGGTGGCACAGCGGGAGCAGTCACGGCCAATGACATGGGCATGGCAGGGACACTGGCCCCCGAAGGGCTCACACGTGGGGCCTGTAGCACCTACTTCGTGGCAGCCACATGGACGGGCTCCGTTGTTATAGAAGAGGGAGAGGGAAGCAGCAGCGTTTCGGCAGAACAGGGATGAGCTGCTGGGGCTACATGGAGGGGCACGTGGTGAGGCCAGCTCCCGGCC...
GTCGACCCGTCCACCTTGGGCTCTGGCACCAACTCCCTGCCACTGGGCGCCCAAGGACTGGGGTACTCACGCCTGCAGTTGGGGAAGCCCCAGTATCCGGTGGCACAGCGGGAGCAGTCACGGCCAATGACATGGGCATGGCAGGGACACTGGCCCCCGAAGGGCTCACACGTGGGGCCTGTAGCACCTACTTCGTGGCAGCCACATGGACGGGCTCCGTTGTTATAGAAGAGGGAGAGGGAAGCAGCAGCGTTTCGGCAGAACAGGGATGAGCTGCTGGGGCTACATGGAGGGGCACGTGGTGAGGCCAGCTCCCGGCC...
Task1_train_48096
This variant is located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Benign
AATATGGTGAAACCCTGTCTCTCCTAAAAATACGAAAATTAGCCAGGCGTGGTGGTGAGTGCCTATAGTCTCAGGTACTTGGGAGACTGAGGCACGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCGCTCCAGCCTGGGCGACAGAGTGAGACTCCATTTCAAAAAAAAAAAAAAAGAAAAGAAAGTTCCAGAACAGGCAACCAACGCTGTCTGTGCCAGGAGGTGGCTGCCCTGGGGCCAGGGAGCTGTGACTGCAGGTGCTTTCCTGAGCACATGGAACAGCTCGGGGGTAC...
AATATGGTGAAACCCTGTCTCTCCTAAAAATACGAAAATTAGCCAGGCGTGGTGGTGAGTGCCTATAGTCTCAGGTACTTGGGAGACTGAGGCACGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCGCTCCAGCCTGGGCGACAGAGTGAGACTCCATTTCAAAAAAAAAAAAAAAGAAAAGAAAGTTCCAGAACAGGCAACCAACGCTGTCTGTGCCAGGAGGTGGCTGCCCTGGGGCCAGGGAGCTGTGACTGCAGGTGCTTTCCTGAGCACATGGAACAGCTCGGGGGTAC...
Task1_train_48097
A mutation on Chromosome 20 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CTTGCAGGAGGGGTTCCAGAAGAAACATGCTGGGCTGGGCATGAGCGAGTGTGGCCGCCTTGGGGACCTGGGACCCCAACTGTCCTCTCCCCTCTCATGCATGTTTCAAATCTTCTGAAAGAAGCTGACCCCTTGGGGTGGGGACCTGAGGGGTCCTTACCAGGAAGAAGCGTGCCTGTTCGGCTGTGAGCCTCACGCTGGCCTCCGAGTCCAGGTGGAAGACAGCCAGGTGGTCCTGGGTATCCCGGGCAGTGCCCCGGCACAGGGTGCTGTGGGGGGAGGGTGGTCAGCAGGTGGGGCAGCCCCGGGCGTGCCCTTAC...
CTTGCAGGAGGGGTTCCAGAAGAAACATGCTGGGCTGGGCATGAGCGAGTGTGGCCGCCTTGGGGACCTGGGACCCCAACTGTCCTCTCCCCTCTCATGCATGTTTCAAATCTTCTGAAAGAAGCTGACCCCTTGGGGTGGGGACCTGAGGGGTCCTTACCAGGAAGAAGCGTGCCTGTTCGGCTGTGAGCCTCACGCTGGCCTCCGAGTCCAGGTGGAAGACAGCCAGGTGGTCCTGGGTATCCCGGGCAGTGCCCCGGCACAGGGTGCTGTGGGGGGAGGGTGGTCAGCAGGTGGGGCAGCCCCGGGCGTGCCCTTAC...
Task1_train_48098
A variant was discovered on Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGACCGCACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAACAAACAAACAAACAAACAAACAAACAAACAAAAACTAAGAATAGAGCTGCCATAAATAAAGCAATCCCACTGCTGGGCATATACCCAAAAGAAAGGAAATCAGTATATGAAAGAGATACCTGGCCGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGGGGCAGAAGTTGCAGTGAGCCGAGATCGCACC...
AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGACCGCACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAACAAACAAACAAACAAACAAACAAACAAACAAAAACTAAGAATAGAGCTGCCATAAATAAAGCAATCCCACTGCTGGGCATATACCCAAAAGAAAGGAAATCAGTATATGAAAGAGATACCTGGCCGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGGGGCAGAAGTTGCAGTGAGCCGAGATCGCACC...
Task1_train_48099
The following genetic variant occurs on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TGGGACCCAGCATGGTGGAGCAGCTTTGAAGCTGAGTCCCCTCTGGGTGCATACTGGGTTCCAGGGGATGATCCTTGGCTTGAGGGCAGGCTGCTTGATGGAAGGGGACGCTCCACAATAAGAAAGAACAAAGGCTTTGGTTTGTCCTCATCCTCCAGTCTGTCCCACACACCTGCCATCTCTGGGTTTTGGTGGCCCCAGTGAGTGGCTGTGGAAAAGGAGGAGGGCCAGGTGGGTGCTGGCAGCTGTCCTGCACCACTGCTGGGGTCGGGTGGAGTTGCTGGTGGAGTTCTGTGATAGCAGAATTGGCATCTCCTTTC...
TGGGACCCAGCATGGTGGAGCAGCTTTGAAGCTGAGTCCCCTCTGGGTGCATACTGGGTTCCAGGGGATGATCCTTGGCTTGAGGGCAGGCTGCTTGATGGAAGGGGACGCTCCACAATAAGAAAGAACAAAGGCTTTGGTTTGTCCTCATCCTCCAGTCTGTCCCACACACCTGCCATCTCTGGGTTTTGGTGGCCCCAGTGAGTGGCTGTGGAAAAGGAGGAGGGCCAGGTGGGTGCTGGCAGCTGTCCTGCACCACTGCTGGGGTCGGGTGGAGTTGCTGGTGGAGTTCTGTGATAGCAGAATTGGCATCTCCTTTC...