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_48300 | Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | CAAGGACAGTGCTCCGGGGTCTGCAGCTCTGTCTCAAAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTC... | CAAGGACAGTGCTCCGGGGTCTGCAGCTCTGTCTCAAAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTC... |
Task1_train_48301 | Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | GTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGA... | GTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGA... |
Task1_train_48302 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | GCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGAACTGCAAAATAAGCCTGGCACTAGAGAATTGTTTTTCCATTAGTGGTTCTGCAGAATGAAAACCGCTAAGTGAACAAAGTACCAAGTGTGGGACTGAATTGATAGGTGCAGTTTTGTCAACTTAAAAATTCTCTTGGGAAAGAAGCTACAAC... | GCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGAACTGCAAAATAAGCCTGGCACTAGAGAATTGTTTTTCCATTAGTGGTTCTGCAGAATGAAAACCGCTAAGTGAACAAAGTACCAAGTGTGGGACTGAATTGATAGGTGCAGTTTTGTCAACTTAAAAATTCTCTTGGGAAAGAAGCTACAAC... |
Task1_train_48303 | A variant found on Chromosome 21 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | TCTAGGAGTGGAATTACTGGCCTTTATGGTAAGTGTATGTTTTACTTTGTAAAAAACTGACAAACTTTTCTGAAAATATTGCATTCTTTTTCCTGTGTGCTGGCAGTGGATGAGCGTTACCCTACATCCTTGTCCACACTTGGTGTTGTCAGTCTTTTAAACTGTAGCCATCCTAGTGGATGTGAAGTGACATCTCATTGTGGTTTGAATTTACATTTTCCTGAGGACTACTGATGTGGAGCATCATTTTAAGGACTTTTTGGCCATTTGCCTGTCTTCCTTCTGAAATGTCTTTCAGATCTCTTGTCCATTTTTATTTG... | TCTAGGAGTGGAATTACTGGCCTTTATGGTAAGTGTATGTTTTACTTTGTAAAAAACTGACAAACTTTTCTGAAAATATTGCATTCTTTTTCCTGTGTGCTGGCAGTGGATGAGCGTTACCCTACATCCTTGTCCACACTTGGTGTTGTCAGTCTTTTAAACTGTAGCCATCCTAGTGGATGTGAAGTGACATCTCATTGTGGTTTGAATTTACATTTTCCTGAGGACTACTGATGTGGAGCATCATTTTAAGGACTTTTTGGCCATTTGCCTGTCTTCCTTCTGAAATGTCTTTCAGATCTCTTGTCCATTTTTATTTG... |
Task1_train_48304 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | TAAAAGCTCAATGCAATCCCAATCAAAATTATAGCAGTTTAAAAAATACTGGAAAAGCTTTCTAAAATTAATTGAGAACAAGCTAGAACCAACGTTTTTAGAAAATAAGATAGTGGCACCTTCTTTATGAGCTGTTAGGATATATTATGAAGCTGAATAACATGGATAAAACAGCTGGAATGGATGCAAGGATAGATCAAGAGATGAATAGAACAAAATACAAAATAGGGATTTCAGAAGCAGGCTATACAAACATTTCTCAGACAAAAGAGATGTTTCAAATGGGAGATGGAGAGAATAAACTAACTTTAAAAAAGGAC... | TAAAAGCTCAATGCAATCCCAATCAAAATTATAGCAGTTTAAAAAATACTGGAAAAGCTTTCTAAAATTAATTGAGAACAAGCTAGAACCAACGTTTTTAGAAAATAAGATAGTGGCACCTTCTTTATGAGCTGTTAGGATATATTATGAAGCTGAATAACATGGATAAAACAGCTGGAATGGATGCAAGGATAGATCAAGAGATGAATAGAACAAAATACAAAATAGGGATTTCAGAAGCAGGCTATACAAACATTTCTCAGACAAAAGAGATGTTTCAAATGGGAGATGGAGAGAATAAACTAACTTTAAAAAAGGAC... |
Task1_train_48305 | With a mutation on Chromosome 21, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | CACAAGAAAAACACACATAGCCTGATAAGAAATGGGCTAGGAATGTGAACAGGAAACTTTCAGTGTGGACGGCCATGCATTTAGGCCATAGTGGGTTCCCAGCAGCCGTCAGTGCGGAGGGCAGGGAGCTGAGAGCAGATCAGGCTGAGCCGGGGTCACGCGGGGTCCCCCAGCCACTGAGGGCCCTGGGCAGCAACCACGCAGACCCCGCCCCCCAGGCTCCACCTCACTTTCTGTGGCATTTCTGTGCCTGTTCTGACCACAGCCGTGGCAGCACCATGTCCATCAGGCTGCGGCCGGCCTGGCTGTGGGGTGACTGC... | CACAAGAAAAACACACATAGCCTGATAAGAAATGGGCTAGGAATGTGAACAGGAAACTTTCAGTGTGGACGGCCATGCATTTAGGCCATAGTGGGTTCCCAGCAGCCGTCAGTGCGGAGGGCAGGGAGCTGAGAGCAGATCAGGCTGAGCCGGGGTCACGCGGGGTCCCCCAGCCACTGAGGGCCCTGGGCAGCAACCACGCAGACCCCGCCCCCCAGGCTCCACCTCACTTTCTGTGGCATTTCTGTGCCTGTTCTGACCACAGCCGTGGCAGCACCATGTCCATCAGGCTGCGGCCGGCCTGGCTGTGGGGTGACTGC... |
Task1_train_48306 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | TGAGTGTGGAAAGGTATATGGTAGAAACACCCACAGAGGTGTTAGAGATAGAACTCAGAGTCGTAAGGAAAACGAGCGCTTAGACAAAGGACTTTTTAGCAAAGCAAATTTATCTTTGCGCAGAGAAGTGCCTCTCACGTGGCCGGTTGCCACGAGAGCACACAGAACAAAGGAGAGTGAAAGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTT... | TGAGTGTGGAAAGGTATATGGTAGAAACACCCACAGAGGTGTTAGAGATAGAACTCAGAGTCGTAAGGAAAACGAGCGCTTAGACAAAGGACTTTTTAGCAAAGCAAATTTATCTTTGCGCAGAGAAGTGCCTCTCACGTGGCCGGTTGCCACGAGAGCACACAGAACAAAGGAGAGTGAAAGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTT... |
Task1_train_48307 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | AGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTTTTCTCAAATAAGGAAAGGAATGTGAGCTGGTGCTGTGGCATGCCTGGGCGTGTAGGAAAAGCAGAAGGAAAGAAGAAGAAAGACATGGGGAGGGGTACTGGGAATGAAACACTAAAGGACTGATCAGGCTGTTTGAAGAGAAACCTTGCCATATCTCACAAGAGGTATCGTTTGTAATAAT... | AGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTTTTCTCAAATAAGGAAAGGAATGTGAGCTGGTGCTGTGGCATGCCTGGGCGTGTAGGAAAAGCAGAAGGAAAGAAGAAGAAAGACATGGGGAGGGGTACTGGGAATGAAACACTAAAGGACTGATCAGGCTGTTTGAAGAGAAACCTTGCCATATCTCACAAGAGGTATCGTTTGTAATAAT... |
Task1_train_48308 | A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | TCGTTTGTAATAATGAACAACTGGAGAGACAGTCAGGGCCATCCACCTGGCGTTGCAGACACCAAGTGCGGCGTGTCCACACTTTGGAACGCTGTACACCTTGCTGAAGAAAACCATGAGAAAATAGTTTTTAAAATCAACCCGGACAAAAAAAAGAATAATGTGTGCCCCCCGCATTGTGATTGTATAGCTGTGGAGAAGTAAAGACTCAGGGCCTCTTGCGGGCAACGTGGTGACGGTCATACCTCGCCAGCATCCCTTGCCTGCATTTGCATTTCTAGGAGTCTATTCTCAGATTTGCTCAATCCTGTTTGAAACCA... | TCGTTTGTAATAATGAACAACTGGAGAGACAGTCAGGGCCATCCACCTGGCGTTGCAGACACCAAGTGCGGCGTGTCCACACTTTGGAACGCTGTACACCTTGCTGAAGAAAACCATGAGAAAATAGTTTTTAAAATCAACCCGGACAAAAAAAAGAATAATGTGTGCCCCCCGCATTGTGATTGTATAGCTGTGGAGAAGTAAAGACTCAGGGCCTCTTGCGGGCAACGTGGTGACGGTCATACCTCGCCAGCATCCCTTGCCTGCATTTGCATTTCTAGGAGTCTATTCTCAGATTTGCTCAATCCTGTTTGAAACCA... |
Task1_train_48309 | Here is a mutation located on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | CCAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTAT... | CCAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTAT... |
Task1_train_48310 | A variant found on Chromosome 21 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | CAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTATG... | CAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTATG... |
Task1_train_48311 | Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | CAAGTCCACAAGAAACACTTCTGCCGTGCTTGCCTTCCCATCCCGGGTTCTGCTCCCGTGCCCACGTCCTCATCCCAGGTTCTGCCATTGTGTCTGCTTGCTGTGGATTGAATTGTGTCCCTCAAAAGGTGCCGAAGTCCTGACCGCTGGTACATGTGAATGTGACCCTATATGGAAATAGGGTCTTTGTAGGTGATCAAGTTAAGAGGAGGCTGTTAGGATAGGCCCTACTGCAATAATGCTTTGTATCCTTATAAAAAGGGGAGATTTGGACACACACACACACACACACACACACACACACACACACACACACACAC... | CAAGTCCACAAGAAACACTTCTGCCGTGCTTGCCTTCCCATCCCGGGTTCTGCTCCCGTGCCCACGTCCTCATCCCAGGTTCTGCCATTGTGTCTGCTTGCTGTGGATTGAATTGTGTCCCTCAAAAGGTGCCGAAGTCCTGACCGCTGGTACATGTGAATGTGACCCTATATGGAAATAGGGTCTTTGTAGGTGATCAAGTTAAGAGGAGGCTGTTAGGATAGGCCCTACTGCAATAATGCTTTGTATCCTTATAAAAAGGGGAGATTTGGACACACACACACACACACACACACACACACACACACACACACACACAC... |
Task1_train_48312 | Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | AATGCCAATCTAACCCAAACTTTTCCAGAAAACCGTGGGGTAGACACAGTGTCGGCGAGGGTGCTAGGGATTAGGGGACGGAGGCTGAGGCCTCACGGGTGGCAGGGATGCCCTTGGTGGGCTCTGGCCATGGACACAGACTCCTGGGATGAGAGGGGGACTCATGGAGGAACACCCACGCCTTGACCCTGAGATGGCCTTGCAGGGAGGGTAACTGAAAATTTACCCACTGGGGACAGTTGCCTACTTACTAAAACAGTTCCAGCCACCACCGCAGCCCCTGGAAGGCCATCCCCCCAGAAAATCCCCCAGGTCTCAGC... | AATGCCAATCTAACCCAAACTTTTCCAGAAAACCGTGGGGTAGACACAGTGTCGGCGAGGGTGCTAGGGATTAGGGGACGGAGGCTGAGGCCTCACGGGTGGCAGGGATGCCCTTGGTGGGCTCTGGCCATGGACACAGACTCCTGGGATGAGAGGGGGACTCATGGAGGAACACCCACGCCTTGACCCTGAGATGGCCTTGCAGGGAGGGTAACTGAAAATTTACCCACTGGGGACAGTTGCCTACTTACTAAAACAGTTCCAGCCACCACCGCAGCCCCTGGAAGGCCATCCCCCCAGAAAATCCCCCAGGTCTCAGC... |
Task1_train_48313 | This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Benign | GTGAGTGACCATTTTGAGGGACGGTTTTCCAAGGTGCTTTCACTAGGAGTTGAAGCTCTGATGAAGCAGAAGACACATCGAATGAGGACCCAGAGCAGGGGTCAGAGGTGAGACCCCCCCACCAGGAGATGTCCTCCCTGGGGATGGCCAGACAGGCTGGGTCCTGTCGGTGCCTCGGACGAGGGCAGGTGGGGACAATGACAAACATGGAGGAGGTCAGAGAGCCAGCCCCGGCCCCTCCACCTGGCTCTCTGTTCTGACCTTGTAGCCATCAGTGGGCATAGTGAGGTGGGTGGGGCTCAGACACGCATGTGTGGGGA... | GTGAGTGACCATTTTGAGGGACGGTTTTCCAAGGTGCTTTCACTAGGAGTTGAAGCTCTGATGAAGCAGAAGACACATCGAATGAGGACCCAGAGCAGGGGTCAGAGGTGAGACCCCCCCACCAGGAGATGTCCTCCCTGGGGATGGCCAGACAGGCTGGGTCCTGTCGGTGCCTCGGACGAGGGCAGGTGGGGACAATGACAAACATGGAGGAGGTCAGAGAGCCAGCCCCGGCCCCTCCACCTGGCTCTCTGTTCTGACCTTGTAGCCATCAGTGGGCATAGTGAGGTGGGTGGGGCTCAGACACGCATGTGTGGGGA... |
Task1_train_48314 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | TTCACCTTTGAACAATGTTCTTCCTGGTCTAGAATTCTAGGTTTGCAGTGATTTTCTTTCAGCTCTTTAAAGATGTCATTCTATTACCTTTAGTTTCTTCAACAGCTCTTTTAGGAGAGCTTTAAAGGAATCATTTTTAAAACATTTTGTTCAGCTTTTCAAGTTGTTCTCAGCAGGAGTATATGTCTGACATAGCTACTTTGTCCCATATGGAAGCAGAGGCCCCCATTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTTCCATCCCATAGGACCAGATCCTGTACCTCTGGAGGGACCAGGCCATGC... | TTCACCTTTGAACAATGTTCTTCCTGGTCTAGAATTCTAGGTTTGCAGTGATTTTCTTTCAGCTCTTTAAAGATGTCATTCTATTACCTTTAGTTTCTTCAACAGCTCTTTTAGGAGAGCTTTAAAGGAATCATTTTTAAAACATTTTGTTCAGCTTTTCAAGTTGTTCTCAGCAGGAGTATATGTCTGACATAGCTACTTTGTCCCATATGGAAGCAGAGGCCCCCATTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTTCCATCCCATAGGACCAGATCCTGTACCTCTGGAGGGACCAGGCCATGC... |
Task1_train_48315 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | GGCCCCTGGAGCCCTCTCCCCTGGGTAGGGGCCACTTCTCAGGGCCGCATGCATGCTGGGCTATGGCTGGTCATCACTGACATCACCAGGCACCAAGCAGCCCACCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAG... | GGCCCCTGGAGCCCTCTCCCCTGGGTAGGGGCCACTTCTCAGGGCCGCATGCATGCTGGGCTATGGCTGGTCATCACTGACATCACCAGGCACCAAGCAGCCCACCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAG... |
Task1_train_48316 | This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease? | Benign | CCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAGACTTAGATCAGATGTCTAGCTGGGGTGACCAAGGACTTAGCTGGCAATCAAGAAAACACACTGCAAGCGAAAGCAGTGCTTGCTGCTTTTCACACGGCAGTGCT... | CCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAGACTTAGATCAGATGTCTAGCTGGGGTGACCAAGGACTTAGCTGGCAATCAAGAAAACACACTGCAAGCGAAAGCAGTGCTTGCTGCTTTTCACACGGCAGTGCT... |
Task1_train_48317 | A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | AGGAGTTCAAGACCAGCTGGGCAACATAGCAAGACTCTGGTCTCTACAAAAAAAATTTTTTTTTACAAAAAGAAATATTGATAATGGGACTTGAATTATCTATGATTGAAGCGTATCATAAAGCTATGGCCTGAAAGAGCAGAACCAAATCCATAGCCCAAAATGGACCAGTTCAAAACTTTTCTATCCTGTCTGAAACCCAGTCCTATCCCCAGCGTTCCCACATGCAAGTCTGAGTGGACCTCGGGGAAGGCCGCGGGGAGCGGCATGGCCTCTCTTTCCTTGCTCCCCTTCTCCCTGTTTTGGGCTCTAATTTCTTC... | AGGAGTTCAAGACCAGCTGGGCAACATAGCAAGACTCTGGTCTCTACAAAAAAAATTTTTTTTTACAAAAAGAAATATTGATAATGGGACTTGAATTATCTATGATTGAAGCGTATCATAAAGCTATGGCCTGAAAGAGCAGAACCAAATCCATAGCCCAAAATGGACCAGTTCAAAACTTTTCTATCCTGTCTGAAACCCAGTCCTATCCCCAGCGTTCCCACATGCAAGTCTGAGTGGACCTCGGGGAAGGCCGCGGGGAGCGGCATGGCCTCTCTTTCCTTGCTCCCCTTCTCCCTGTTTTGGGCTCTAATTTCTTC... |
Task1_train_48318 | A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic? | Benign | GTGGCGTGTCCCTTTGATGGAATATGATTCAGCCAAGAAAAGGAATGGCGTTCTGAAACATACCCAAACACAGGTGTACCTTGAAAACATGCTGAGTGAACAAAGCTAGACACAAAGACCACATATTCCATGACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACA... | GTGGCGTGTCCCTTTGATGGAATATGATTCAGCCAAGAAAAGGAATGGCGTTCTGAAACATACCCAAACACAGGTGTACCTTGAAAACATGCTGAGTGAACAAAGCTAGACACAAAGACCACATATTCCATGACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACA... |
Task1_train_48319 | A variant was discovered on Chromosome 21. What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Benign | GACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATC... | GACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATC... |
Task1_train_48320 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | AGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAG... | AGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAG... |
Task1_train_48321 | This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign? | Benign | TGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACT... | TGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACT... |
Task1_train_48322 | This alteration occurs on Chromosome 21. Is it associated with a disease or is it a benign variant? | Benign | AAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACTTCAAATTTTTCACATTAATCTTCCACCTGTCATGGAGATTACAAGTACTTTCTGGCAGTTCATATCTTCATTTGTGTACCCAATGATTCCTTCAG... | AAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACTTCAAATTTTTCACATTAATCTTCCACCTGTCATGGAGATTACAAGTACTTTCTGGCAGTTCATATCTTCATTTGTGTACCCAATGATTCCTTCAG... |
Task1_train_48323 | This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | CACTTCGGAGATAAGTCTTTATATTGAAAGGCTCAATAAGTTCTAACCACTGAAAGTAAAATAATGCATTAGCCTAGAAACAAAAGCGTGACACTTTAGAACAATAAAAAGAAACCCAAATGCTCCCAGAGAGTTAAGGAAAGAGAGAAACTAAAAAATGACAAATGACCAGTATCAGACTGTCATCGGCAACACTGGACATCACAAAAAAATGGTGACATGTGTTCATCATTTTGAGGAAAAGTAATTTAAAACCAGAATTTTATACCCAGCTAAACTATCATTATAAATGTGAGGATAAAGTTGACATATTTTCAGAC... | CACTTCGGAGATAAGTCTTTATATTGAAAGGCTCAATAAGTTCTAACCACTGAAAGTAAAATAATGCATTAGCCTAGAAACAAAAGCGTGACACTTTAGAACAATAAAAAGAAACCCAAATGCTCCCAGAGAGTTAAGGAAAGAGAGAAACTAAAAAATGACAAATGACCAGTATCAGACTGTCATCGGCAACACTGGACATCACAAAAAAATGGTGACATGTGTTCATCATTTTGAGGAAAAGTAATTTAAAACCAGAATTTTATACCCAGCTAAACTATCATTATAAATGTGAGGATAAAGTTGACATATTTTCAGAC... |
Task1_train_48324 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | GAGCTGTGGACAGAACTTAGAAGTCTATGGACCCAGAGCCGATCTGTGGCCATGTGGGAGTCACCTTAAGGCCTAGGGACAAGCCGGGCGAGGCCACAAGTTCACAGGCAACTCCTTTCACTGCTATAGTTCAGAATCACACTTAAAAACCAAGAGAATTGGGGCAGCCACAGTGATTGTGAGCTAGTCACCAAGTAATCCATTTTAAAAGTTGGTTGTCTTACGAGTCGATTACAGAAGAACAAGGATGCGTCTTTGATATTTATCTGCTCCTTTACCTTCCCCTGTTCCTCCTACTCCTTCCTGCAGGTCAGGGCCCA... | GAGCTGTGGACAGAACTTAGAAGTCTATGGACCCAGAGCCGATCTGTGGCCATGTGGGAGTCACCTTAAGGCCTAGGGACAAGCCGGGCGAGGCCACAAGTTCACAGGCAACTCCTTTCACTGCTATAGTTCAGAATCACACTTAAAAACCAAGAGAATTGGGGCAGCCACAGTGATTGTGAGCTAGTCACCAAGTAATCCATTTTAAAAGTTGGTTGTCTTACGAGTCGATTACAGAAGAACAAGGATGCGTCTTTGATATTTATCTGCTCCTTTACCTTCCCCTGTTCCTCCTACTCCTTCCTGCAGGTCAGGGCCCA... |
Task1_train_48325 | A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic? | Benign | TAAATAGACCATGTTATGGATTGCTGGATATGTCGACTCTCCCCAAATTGATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGA... | TAAATAGACCATGTTATGGATTGCTGGATATGTCGACTCTCCCCAAATTGATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGA... |
Task1_train_48326 | This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | ATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGT... | ATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGT... |
Task1_train_48327 | This sequence variant lies on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Benign | GAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTT... | GAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTT... |
Task1_train_48328 | A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | TGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATG... | TGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATG... |
Task1_train_48329 | A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant. | Benign | GCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATGT... | GCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATGT... |
Task1_train_48330 | A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | GGCAAACAGTTTATGGCTAAGACTACAAAAACACAGGCAACAAAAACCAAAATAGACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCA... | GGCAAACAGTTTATGGCTAAGACTACAAAAACACAGGCAACAAAAACCAAAATAGACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCA... |
Task1_train_48331 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | GACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCAACATCACTAATCATCAGGGAACTTCAGATCAAAACTACAATGAGATAGCATCAT... | GACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCAACATCACTAATCATCAGGGAACTTCAGATCAAAACTACAATGAGATAGCATCAT... |
Task1_train_48332 | A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | TTTTCACTTCAAGGGGCCCATCCACCACACACCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAA... | TTTTCACTTCAAGGGGCCCATCCACCACACACCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAA... |
Task1_train_48333 | This sequence change occurs on Chromosome 21. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | CCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAAATCCTCTCTCTTTAGATGGAAGGAGCTCCTT... | CCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAAATCCTCTCTCTTTAGATGGAAGGAGCTCCTT... |
Task1_train_48334 | Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | TTTCCTGAATAAAAATAAACGTCCAGACCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGG... | TTTCCTGAATAAAAATAAACGTCCAGACCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGG... |
Task1_train_48335 | Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | CCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGG... | CCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGG... |
Task1_train_48336 | A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | ATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGGCTA... | ATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGGCTA... |
Task1_train_48337 | A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | TCAGAGGCCCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGC... | TCAGAGGCCCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGC... |
Task1_train_48338 | This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease? | Benign | CCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGCACCCTACG... | CCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGCACCCTACG... |
Task1_train_48339 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | TTTAGTTGTTTTTAAAACATAAAGTTTAGAATTAGCTGCACAGGTTTGACTAAAAATCCCGTTGAAATTTTAGCTGAGGCAGCATCCGATTTTTCCGGAGTAACTGACAGAGAAGAACTGCACTCTCCCGTTGGTTCTCCTGGCTGCTTGGAAGCTGGTGTTTGTGTGGGACCTCCCCTAGGTGCTGCAGATGAGAGCAGTGCTGAGTGTTCCCAGGCCGTGGGTCCCGCCCCGCCACTGCCTCGCTCCCTCCCTCCCCCTCAGAATTGAGTGGGCCGGGTGGGATTGTCGATATTGTGGTCATCTTTTCCTTGCTCGGA... | TTTAGTTGTTTTTAAAACATAAAGTTTAGAATTAGCTGCACAGGTTTGACTAAAAATCCCGTTGAAATTTTAGCTGAGGCAGCATCCGATTTTTCCGGAGTAACTGACAGAGAAGAACTGCACTCTCCCGTTGGTTCTCCTGGCTGCTTGGAAGCTGGTGTTTGTGTGGGACCTCCCCTAGGTGCTGCAGATGAGAGCAGTGCTGAGTGTTCCCAGGCCGTGGGTCCCGCCCCGCCACTGCCTCGCTCCCTCCCTCCCCCTCAGAATTGAGTGGGCCGGGTGGGATTGTCGATATTGTGGTCATCTTTTCCTTGCTCGGA... |
Task1_train_48340 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | GAGTGTCCGGGAGGGGTGGCCCTTTCCGAGCTGTGGGGCTGACCCGGGTCCAGAGGTGGAGGGATATGAGTGGGAGCCACGGGCCACGGTGCTTCCTGAGCCTGCAGAGGCCGAGAGCTGGGGCTCCAGCCGGTGCTCCGCACAGGTACCCTGTTCTCAGGGCGTGAGCTCGTGAGGCCCGTGGGGGCTGTGGGGGACGTTTCGGGGGCACCCAGGCCCACCCTTGTGAGGAGCCTGGTGGCTCTGCTGATGCCGAGCTCCCTCATGTGCCCCTCCCCCGACATTGACCACAGCTCCTGCCGGGTCCCACTGGGGGTCCC... | GAGTGTCCGGGAGGGGTGGCCCTTTCCGAGCTGTGGGGCTGACCCGGGTCCAGAGGTGGAGGGATATGAGTGGGAGCCACGGGCCACGGTGCTTCCTGAGCCTGCAGAGGCCGAGAGCTGGGGCTCCAGCCGGTGCTCCGCACAGGTACCCTGTTCTCAGGGCGTGAGCTCGTGAGGCCCGTGGGGGCTGTGGGGGACGTTTCGGGGGCACCCAGGCCCACCCTTGTGAGGAGCCTGGTGGCTCTGCTGATGCCGAGCTCCCTCATGTGCCCCTCCCCCGACATTGACCACAGCTCCTGCCGGGTCCCACTGGGGGTCCC... |
Task1_train_48341 | Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | TTTGGATTATGCATTTTCTTCAGGATTGTCTTTGTAAAAGCTATTTTTATCTCCTGTTTGATGTTTGTTCTTGCTTCAATTTTAGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAA... | TTTGGATTATGCATTTTCTTCAGGATTGTCTTTGTAAAAGCTATTTTTATCTCCTGTTTGATGTTTGTTCTTGCTTCAATTTTAGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAA... |
Task1_train_48342 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | CACATTAACTGACCCCAGCCCTGGGGGAGGGTGGCTGCAACCCCAGCCGCACAGCCTGGAGGAGGCAGGGTGACGAGGGACTCCAGCTGGGGGAGCTGGCGTGCAGAGCACTGAGGGGGTGGGTGGATTGTGGGGTGAAACCTGGGTGTGTGCGTGTGAGGATGCACATGTGTGAACGTGTGTGTGAGTGAGCACGCCTGTGTAAACTGCCTGGCTCCACCTCTGATGGGCTCCGTGATCTTGAGCGGGGTCACCAGGCTCATGCCTCAGTTTTCTTCATCTGTGAAATGGGCCGATGGCCAGGCTGCACACAGGTCCTC... | CACATTAACTGACCCCAGCCCTGGGGGAGGGTGGCTGCAACCCCAGCCGCACAGCCTGGAGGAGGCAGGGTGACGAGGGACTCCAGCTGGGGGAGCTGGCGTGCAGAGCACTGAGGGGGTGGGTGGATTGTGGGGTGAAACCTGGGTGTGTGCGTGTGAGGATGCACATGTGTGAACGTGTGTGTGAGTGAGCACGCCTGTGTAAACTGCCTGGCTCCACCTCTGATGGGCTCCGTGATCTTGAGCGGGGTCACCAGGCTCATGCCTCAGTTTTCTTCATCTGTGAAATGGGCCGATGGCCAGGCTGCACACAGGTCCTC... |
Task1_train_48343 | Here is a mutation located on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | AATTGATTCCATAGTAAGTTAGAATGGCTTTACCATTTTAACTTAGTACATTTCCTTTTACACACGTATTTTGAAGTCTTGACTGTTACTAGCGGGCTTTTCTTGCGGCAGACGCATCTCACAGCAGGGCCTCCAGCTGCACTAACACTGTGTCTCCTCTGCCCTGACAGGGACCTCCCGGCCTGCCGGGACTTAAGGTCAGTGACGGATATGTCTGGGTTTCTGTGGTTGCTGGCTTGGCCCTGTCTCGACATCTTGGGGCTGGGGGAGACAGGGCCTTGCCTCGGGTTTTCTGATGGCAGGAGTAGGATGAATTCATC... | AATTGATTCCATAGTAAGTTAGAATGGCTTTACCATTTTAACTTAGTACATTTCCTTTTACACACGTATTTTGAAGTCTTGACTGTTACTAGCGGGCTTTTCTTGCGGCAGACGCATCTCACAGCAGGGCCTCCAGCTGCACTAACACTGTGTCTCCTCTGCCCTGACAGGGACCTCCCGGCCTGCCGGGACTTAAGGTCAGTGACGGATATGTCTGGGTTTCTGTGGTTGCTGGCTTGGCCCTGTCTCGACATCTTGGGGCTGGGGGAGACAGGGCCTTGCCTCGGGTTTTCTGATGGCAGGAGTAGGATGAATTCATC... |
Task1_train_48344 | A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | GGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGAC... | GGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGAC... |
Task1_train_48345 | Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | TCTCTCAAGTCAGATTGGGCAGGAGAGCAACTTGCGAAAGCTGGGTCACAAGACACCACTTACGTGAACTTCCTAGACACAAGCCTGGCAACAACAGGGGCTGGCGAGTCCTGGCAGGCTGGGCCTCCCTTGCCCCCGAAGCTGCTCCCCGCCCACCTACTGGTGGCTGCCCCTGCACCCCGGCGCCCACGTGCCTGCTCCCGCGTGAAGTTCTTGTCGGGCCCCAGGAGGGAGGGCGTGATGAAGCTCTCCCCGGGCCTCTCCTGCAGCCAGAGGGGCTGAGATCGGGGGCCCCACCAAGTGGCAGGTGCGCAGAGCAC... | TCTCTCAAGTCAGATTGGGCAGGAGAGCAACTTGCGAAAGCTGGGTCACAAGACACCACTTACGTGAACTTCCTAGACACAAGCCTGGCAACAACAGGGGCTGGCGAGTCCTGGCAGGCTGGGCCTCCCTTGCCCCCGAAGCTGCTCCCCGCCCACCTACTGGTGGCTGCCCCTGCACCCCGGCGCCCACGTGCCTGCTCCCGCGTGAAGTTCTTGTCGGGCCCCAGGAGGGAGGGCGTGATGAAGCTCTCCCCGGGCCTCTCCTGCAGCCAGAGGGGCTGAGATCGGGGGCCCCACCAAGTGGCAGGTGCGCAGAGCAC... |
Task1_train_48346 | The following genetic variant occurs on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | AGGGGTGGATCCTGGGGTCTCCAGGGCCCAGGCTGAGCTGCAGAATCCGAGTTACAAGAACCACGTGGGGCCTGCAAGGGGAAGAGCAGAGTGTCAGCGTTAGACTTGCAGGTTGGAGCCGCCACTTGTCCAGGAAATGGAAATGCTGAGCACGAAGAGCAGAGCAGCCTCTGGCCCCTCCTGTGCCAGTACTCATGGGGCTTGCAGCTTCCAAGCAAGAGCAAATCATGGACTTGAACTCTGAGAGGTTGTCTTTTATCTGATGGTACTAAGTGGAGATTTGTAAATATAAAAGCTTAGGCTTGATGATCAATTAGACC... | AGGGGTGGATCCTGGGGTCTCCAGGGCCCAGGCTGAGCTGCAGAATCCGAGTTACAAGAACCACGTGGGGCCTGCAAGGGGAAGAGCAGAGTGTCAGCGTTAGACTTGCAGGTTGGAGCCGCCACTTGTCCAGGAAATGGAAATGCTGAGCACGAAGAGCAGAGCAGCCTCTGGCCCCTCCTGTGCCAGTACTCATGGGGCTTGCAGCTTCCAAGCAAGAGCAAATCATGGACTTGAACTCTGAGAGGTTGTCTTTTATCTGATGGTACTAAGTGGAGATTTGTAAATATAAAAGCTTAGGCTTGATGATCAATTAGACC... |
Task1_train_48347 | With a mutation on Chromosome 21, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | ACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCC... | ACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCC... |
Task1_train_48348 | A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless? | Benign | CCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCAC... | CCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCAC... |
Task1_train_48349 | Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | TTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAAC... | TTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAAC... |
Task1_train_48350 | A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | GTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCAC... | GTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCAC... |
Task1_train_48351 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | GCTCTGTCATCTGACCACACAGCCTGCAGCTCCAGGGGAGTACGTCAGTTATTTTCTCTTCCTTTCCTCCTTTTCCCATCCCACAAAAAAACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCC... | GCTCTGTCATCTGACCACACAGCCTGCAGCTCCAGGGGAGTACGTCAGTTATTTTCTCTTCCTTTCCTCCTTTTCCCATCCCACAAAAAAACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCC... |
Task1_train_48352 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | AACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCCCACGTGTGCAGCCTCGGACCCTGCAGGGCAGGAACGTCAGTCCCACTGGAAGGGACTTCCAGCTACCTACAGGCTCTACCCACAGCTCC... | AACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCCCACGTGTGCAGCCTCGGACCCTGCAGGGCAGGAACGTCAGTCCCACTGGAAGGGACTTCCAGCTACCTACAGGCTCTACCCACAGCTCC... |
Task1_train_48353 | This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign? | Benign | CATTGGCCCTTCACCAATTACACCACACCAGCATCCCCTCACCAGCATCCCTCACAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCACAAATGTCTCCTCCCTCACGGTCCTAACATCAATGTCCCCTCACAAATGTCCCCTCATGGTCCTAACACCAATGTCCCCTCATGGTCCCAACACCAGTGTCCCCTCACAAATGTCCCCTTCATTGTCCCAACACCAATGTCCCCACACAAATGTTCCCTCACGGTCCTAACACCAATGTCCCCTCACAAT... | CATTGGCCCTTCACCAATTACACCACACCAGCATCCCCTCACCAGCATCCCTCACAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCACAAATGTCTCCTCCCTCACGGTCCTAACATCAATGTCCCCTCACAAATGTCCCCTCATGGTCCTAACACCAATGTCCCCTCATGGTCCCAACACCAGTGTCCCCTCACAAATGTCCCCTTCATTGTCCCAACACCAATGTCCCCACACAAATGTTCCCTCACGGTCCTAACACCAATGTCCCCTCACAAT... |
Task1_train_48354 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | GACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACACAACACAGGTTTGGTGCCAAAACTTTACTGGAGGTCACATGGGACTAGGGGCCTTCTGTCCCTGCCAGCGCCTCCATTCCCAGGCGATGCCCCGCTGCCTGCCCACCTACCCTCCGGGCCCCACACGAACAAGCTGTGTC... | GACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACACAACACAGGTTTGGTGCCAAAACTTTACTGGAGGTCACATGGGACTAGGGGCCTTCTGTCCCTGCCAGCGCCTCCATTCCCAGGCGATGCCCCGCTGCCTGCCCACCTACCCTCCGGGCCCCACACGAACAAGCTGTGTC... |
Task1_train_48355 | This variant is present on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Benign | GGGCTGGCTGGAGAATGGCCCTGGCTGGAGGATGTGGGGCCCCCGCCCTGCCCACGGGACAGATCGGCTCGCCCCTCACAGCAGCAGCGGCTGCTCCCGGGCTCACCTGTGCTTCTCGGCAGGTCTCCTCGTAGACCGTGTGCAGTGCCGTGACCTCAAAGTCCAGAAGATTGGTGGACACCTGAGCCAGGTTCTTCTCATCCAGGTACCAGCCAATGCCCTGAACTTTCTTCAGACGTCCTGGCTGCAAAGGAAGAGCGTTCCCCAGCCTGGACTAGGAAGCTCATCCTGCCTGGCCCTGCCAGTCTCTCCTGGCACTT... | GGGCTGGCTGGAGAATGGCCCTGGCTGGAGGATGTGGGGCCCCCGCCCTGCCCACGGGACAGATCGGCTCGCCCCTCACAGCAGCAGCGGCTGCTCCCGGGCTCACCTGTGCTTCTCGGCAGGTCTCCTCGTAGACCGTGTGCAGTGCCGTGACCTCAAAGTCCAGAAGATTGGTGGACACCTGAGCCAGGTTCTTCTCATCCAGGTACCAGCCAATGCCCTGAACTTTCTTCAGACGTCCTGGCTGCAAAGGAAGAGCGTTCCCCAGCCTGGACTAGGAAGCTCATCCTGCCTGGCCCTGCCAGTCTCTCCTGGCACTT... |
Task1_train_48356 | A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | GTGGGGGGACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCAC... | GTGGGGGGACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCAC... |
Task1_train_48357 | Here’s a variant located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing? | Benign | CTCAATCACCCTGGGGCAGGACGGTGGTCAACTAGACACCACCCCATAGCCCGGAGCCCAGGGAAATTAACCTGTCCAATCCTAAACTTGCTCCTTCGTGCCTACCCTCCCTGGCCTCTCTTCCCAGGGAAACCCCCACAGAGCCTCTGGCCATGCTCTCCCCTCTCGCCTTCTGCGTCCTGTTGCCACGGCGCCCCGCCCCGGGCGGCCCTGTGTGGCACGGTACGTGCCCTCCTGTGGTTTAAGTAGCTGGGTCTGCAGTACTTTGTGACACACTCTCCTTTAAAGTCAGGAGTCCTGTGTCTGTATCCCACCACACC... | CTCAATCACCCTGGGGCAGGACGGTGGTCAACTAGACACCACCCCATAGCCCGGAGCCCAGGGAAATTAACCTGTCCAATCCTAAACTTGCTCCTTCGTGCCTACCCTCCCTGGCCTCTCTTCCCAGGGAAACCCCCACAGAGCCTCTGGCCATGCTCTCCCCTCTCGCCTTCTGCGTCCTGTTGCCACGGCGCCCCGCCCCGGGCGGCCCTGTGTGGCACGGTACGTGCCCTCCTGTGGTTTAAGTAGCTGGGTCTGCAGTACTTTGTGACACACTCTCCTTTAAAGTCAGGAGTCCTGTGTCTGTATCCCACCACACC... |
Task1_train_48358 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | CATGGACCACCTGGCCGAGACTGTGTGGCTGCAGCCCTAGGCCTGGGGCCCAAAGCTCCTGGCCCAGCCACAGAGCCAGCCCAGTGCCGGCGTGGCCACAGGCGACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCACAGAGCCAGCCCACTGCCGGTGTGGCCACAGGCCACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCAGAGCTTCTCAGGCCAGTGGGCCCCTCGTCTGCCGGGCATGAGGTTGGGCCCGCACCCCAGGATCCAGCCCATCTGCACCTGGGAGCTGAATGTTGTAGCTACCAGCCA... | CATGGACCACCTGGCCGAGACTGTGTGGCTGCAGCCCTAGGCCTGGGGCCCAAAGCTCCTGGCCCAGCCACAGAGCCAGCCCAGTGCCGGCGTGGCCACAGGCGACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCACAGAGCCAGCCCACTGCCGGTGTGGCCACAGGCCACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCAGAGCTTCTCAGGCCAGTGGGCCCCTCGTCTGCCGGGCATGAGGTTGGGCCCGCACCCCAGGATCCAGCCCATCTGCACCTGGGAGCTGAATGTTGTAGCTACCAGCCA... |
Task1_train_48359 | This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease? | Benign | GTGAGGACCAGGCTGAGCGTGCTGGCTTGTGCAGCATGAGCCAAGACTCCCCTGAGACACGGTAAATGCCCCTCGTTCCAGGGCACTTTGGAACTGGGTATCTCCTCAGCCCCAAGGTCCCGCCAATTCACTGAGGGCCCGTCTTCTCGCTGTTCCGGCCTCCGGCAGGGAGATGACCCAGGGGGAGGGGAATTGATGGGTCAGCTCCCCAGCTCCCCGCTCCGGGATGGTGCAAGGTGCACCTGACATGGTCTCCGGGGCTCCCCTGTGCTCGTCCACCCCCAGCACCCCCATGGTCTCCGGGGCTCCCCGGCGCTCGC... | GTGAGGACCAGGCTGAGCGTGCTGGCTTGTGCAGCATGAGCCAAGACTCCCCTGAGACACGGTAAATGCCCCTCGTTCCAGGGCACTTTGGAACTGGGTATCTCCTCAGCCCCAAGGTCCCGCCAATTCACTGAGGGCCCGTCTTCTCGCTGTTCCGGCCTCCGGCAGGGAGATGACCCAGGGGGAGGGGAATTGATGGGTCAGCTCCCCAGCTCCCCGCTCCGGGATGGTGCAAGGTGCACCTGACATGGTCTCCGGGGCTCCCCTGTGCTCGTCCACCCCCAGCACCCCCATGGTCTCCGGGGCTCCCCGGCGCTCGC... |
Task1_train_48360 | Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | AACAAGACCCAACCATCTGCTGCCTACAAGAAACACACGTCGCCTATAAAGACTCACACAGACTGAAAATAAAGGGATAGAAAAGGATATTCCATGCAAATGAGAACCAAAAAAGAGCAGTAGCAGCCATAGTTATATCAAAGTGGATTTCAAGACAAAAACTATAACAAGAGACAAAGAAGGTCATTATATAATGATAAAGGGGTCAATTCAGCAAGAGGATATAACAGTTATAAATATATATGCACCCAACACTGGAGCACCCAGATATGTAAAGCAAATATTACTAGAGCTAAATCGAGAGACAGACCCCAGTACAA... | AACAAGACCCAACCATCTGCTGCCTACAAGAAACACACGTCGCCTATAAAGACTCACACAGACTGAAAATAAAGGGATAGAAAAGGATATTCCATGCAAATGAGAACCAAAAAAGAGCAGTAGCAGCCATAGTTATATCAAAGTGGATTTCAAGACAAAAACTATAACAAGAGACAAAGAAGGTCATTATATAATGATAAAGGGGTCAATTCAGCAAGAGGATATAACAGTTATAAATATATATGCACCCAACACTGGAGCACCCAGATATGTAAAGCAAATATTACTAGAGCTAAATCGAGAGACAGACCCCAGTACAA... |
Task1_train_48361 | A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | AATCCAGAACACTGCCACCACCAAATGCTGCTGAGGACGTGGAGTAACAGGAACTCATTGTTGGTGGGAATGCAAATTGGCACAGCCACTTTTGTTTGTTTGATTTCTTTTTTGTCTTTTTTGAGACGAAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG... | AATCCAGAACACTGCCACCACCAAATGCTGCTGAGGACGTGGAGTAACAGGAACTCATTGTTGGTGGGAATGCAAATTGGCACAGCCACTTTTGTTTGTTTGATTTCTTTTTTGTCTTTTTTGAGACGAAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG... |
Task1_train_48362 | A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | GGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTA... | GGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTA... |
Task1_train_48363 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | AACCCCTGGCCCCAGGAAGGAGCACATGAAGACAGCTACCTGGGAAGGTCCAGGGACACCTCAGTGCTCAGGTGAGCGAGGGGCCCAGGTGCACATGCGCCTGGAGAAGGCAAGGTGGGGAAGTGACAGCGCACACTCAGCCTCGCCCTCTGAGCCAAGCCTGAGCTGCCCCAGTCTGTGTCATCTCCACTTGGCAGACTGGTCCTGTATGGGAACAAAGACGACCCTAGACTCCAGAGTAGCTCCGGCACGCTGGCCCCATGCCAGAGCCACTTCAGCAGCAGCAGTCCTGGCACAGCCACACCATCTAAACATGCTTC... | AACCCCTGGCCCCAGGAAGGAGCACATGAAGACAGCTACCTGGGAAGGTCCAGGGACACCTCAGTGCTCAGGTGAGCGAGGGGCCCAGGTGCACATGCGCCTGGAGAAGGCAAGGTGGGGAAGTGACAGCGCACACTCAGCCTCGCCCTCTGAGCCAAGCCTGAGCTGCCCCAGTCTGTGTCATCTCCACTTGGCAGACTGGTCCTGTATGGGAACAAAGACGACCCTAGACTCCAGAGTAGCTCCGGCACGCTGGCCCCATGCCAGAGCCACTTCAGCAGCAGCAGTCCTGGCACAGCCACACCATCTAAACATGCTTC... |
Task1_train_48364 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | TCTTTTTTTTGAGACGGAGTCTGGCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGAACTCGGCTCACTGCAACCGCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATGACAGGCGCGAGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCCAGGTGCTGGGACTACAAGCGTAAGCCACCACGCCCGGCCAATTTCACTTTTTCTGTATTGTTTGAACG... | TCTTTTTTTTGAGACGGAGTCTGGCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGAACTCGGCTCACTGCAACCGCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATGACAGGCGCGAGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCCAGGTGCTGGGACTACAAGCGTAAGCCACCACGCCCGGCCAATTTCACTTTTTCTGTATTGTTTGAACG... |
Task1_train_48365 | A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | GCGCGCTTCCTTCCTTCCAGATGTTCCAGAAGGAGAAGGCGGTGCTGGACGAGCTGGGCCGACGCACGGGGACCCGGCTGCAGCCCCTGACCCGGGGCCTCTTCGGAGGGAGCTGAGGGCCGCGTTCCTTCTGAAAGCGGGACGCGGGAGGGGTGGAGGCTGCGGGGAGCCGGGGTCGCACACGAATAAATAACGAATGAACGTACGAGGGGAACCTCCTCTTATTTCCTTCACGTTGCATCGGGTATTTTTCGTTATTGTAAATAAAACGGTTCCGAGCCGTGGCATCGAGAGGGCGTCTGGAGTTCAGGGAACGCGTG... | GCGCGCTTCCTTCCTTCCAGATGTTCCAGAAGGAGAAGGCGGTGCTGGACGAGCTGGGCCGACGCACGGGGACCCGGCTGCAGCCCCTGACCCGGGGCCTCTTCGGAGGGAGCTGAGGGCCGCGTTCCTTCTGAAAGCGGGACGCGGGAGGGGTGGAGGCTGCGGGGAGCCGGGGTCGCACACGAATAAATAACGAATGAACGTACGAGGGGAACCTCCTCTTATTTCCTTCACGTTGCATCGGGTATTTTTCGTTATTGTAAATAAAACGGTTCCGAGCCGTGGCATCGAGAGGGCGTCTGGAGTTCAGGGAACGCGTG... |
Task1_train_48366 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | TTAATAGAGATGCAGTGGTGGCTCACAGTGGCTTTAATTTGCATTTCCCTAATGACGGATGGTGTTGAGCATCTGGGGCAGACCCGTGGGTAGGATGGCCGCATCCCAACAGGCGTTCTCAATTCTGTCCCAGTGACCTCTCTATCCCAGCCCCCATAACAACTTGGTTAATTACTGTCCTCCATCATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTG... | TTAATAGAGATGCAGTGGTGGCTCACAGTGGCTTTAATTTGCATTTCCCTAATGACGGATGGTGTTGAGCATCTGGGGCAGACCCGTGGGTAGGATGGCCGCATCCCAACAGGCGTTCTCAATTCTGTCCCAGTGACCTCTCTATCCCAGCCCCCATAACAACTTGGTTAATTACTGTCCTCCATCATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTG... |
Task1_train_48367 | This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | CATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTGCCTGGCCTTGTCCCTTCTTCCTCAGTTCACAGAAAGGACGGCAGAGACCAAGAGTTGGCAAACTTTTGCCAAGAGCTACATCGTAAACAGCTTCCAAAGCAGGACACACCGTCAGCTCTTGAGTTGGCCATTGCAGCATGAAAGCAGCTACGGACAATGTGGAAACAAATGGGCCTGGCCCAATA... | CATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTGCCTGGCCTTGTCCCTTCTTCCTCAGTTCACAGAAAGGACGGCAGAGACCAAGAGTTGGCAAACTTTTGCCAAGAGCTACATCGTAAACAGCTTCCAAAGCAGGACACACCGTCAGCTCTTGAGTTGGCCATTGCAGCATGAAAGCAGCTACGGACAATGTGGAAACAAATGGGCCTGGCCCAATA... |
Task1_train_48368 | Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Benign | GCCGGGTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGAGAGGGTTTCACCATGTTGGCCAGGATGTTCTCAATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAACCACCGCGCCCGGCCCGAGCTCCTGACATTGAAGGGAGATGTTGCTGCACTCATGTGGCCGCCCACCCTGGGGACGAGTCCCCGCACAGGCAGCCCTTGTGGAGCCCACCAT... | GCCGGGTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGAGAGGGTTTCACCATGTTGGCCAGGATGTTCTCAATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAACCACCGCGCCCGGCCCGAGCTCCTGACATTGAAGGGAGATGTTGCTGCACTCATGTGGCCGCCCACCCTGGGGACGAGTCCCCGCACAGGCAGCCCTTGTGGAGCCCACCAT... |
Task1_train_48369 | A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | GCCTGGCCTTGTGGGGTCAGCGCTGACCGATCCCTCTTGTCACGGACAGAGCTCTCTCGGTCTCTGCTGTGGCTGGCTTTCTCCGAGCTGCAGGTTTGGGATGTGAGCTTTTACCCTTAGGATCGCAGTGGCAGGGATAAAACCGCACACGTCACTGCTGGGGTGGGGGCCTTGAGCTCATTAGGGTTTCACCTGGACACTTTGCTTTTTCCAGTTAGAGAATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTGATTCTGCCAGGACCAGTAGACAGGAAT... | GCCTGGCCTTGTGGGGTCAGCGCTGACCGATCCCTCTTGTCACGGACAGAGCTCTCTCGGTCTCTGCTGTGGCTGGCTTTCTCCGAGCTGCAGGTTTGGGATGTGAGCTTTTACCCTTAGGATCGCAGTGGCAGGGATAAAACCGCACACGTCACTGCTGGGGTGGGGGCCTTGAGCTCATTAGGGTTTCACCTGGACACTTTGCTTTTTCCAGTTAGAGAATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTGATTCTGCCAGGACCAGTAGACAGGAAT... |
Task1_train_48370 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | GGCCACCAGGGGAGACGCGAGGGGCACGTGCCCTACCGACCTTGCTGCTGAGAGAATTGAGGAGAGGTCTGCCCGGTCCAGGGCCCTGCCGCCCTGAGGAGCACCAGTCCCTGTCAGTGCCACCAATTCTTGTATGTCTTCCGGAGGCCTGACTGAGAGACGGGTGTGGGCGGGAGAGCATGTGAGCACGCCAGTGGGCTGGCGGGGTTCACCAGGGCGCAGCGTGTGGTCTCATGAACCTAGTGAGGTTTGAGTTTTCTTTGTGCATAGCAGGAAACACCTTTGAGGGTTATAGCTGCGAGCGAGGTAGCTTGGCTCAC... | GGCCACCAGGGGAGACGCGAGGGGCACGTGCCCTACCGACCTTGCTGCTGAGAGAATTGAGGAGAGGTCTGCCCGGTCCAGGGCCCTGCCGCCCTGAGGAGCACCAGTCCCTGTCAGTGCCACCAATTCTTGTATGTCTTCCGGAGGCCTGACTGAGAGACGGGTGTGGGCGGGAGAGCATGTGAGCACGCCAGTGGGCTGGCGGGGTTCACCAGGGCGCAGCGTGTGGTCTCATGAACCTAGTGAGGTTTGAGTTTTCTTTGTGCATAGCAGGAAACACCTTTGAGGGTTATAGCTGCGAGCGAGGTAGCTTGGCTCAC... |
Task1_train_48371 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | GTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAG... | GTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAG... |
Task1_train_48372 | Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | GTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGT... | GTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGT... |
Task1_train_48373 | With a mutation on Chromosome 21, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | GAGGTTTTTCCCAGGTCACCTCACAGGGTTTTAAGTTTTGCTTTTGTGTGACTCTGGGGTGAGCCTGCAGAGTTGTTCTTGCTTGCACCTGTCTGGGCAGTGGACTCGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCC... | GAGGTTTTTCCCAGGTCACCTCACAGGGTTTTAAGTTTTGCTTTTGTGTGACTCTGGGGTGAGCCTGCAGAGTTGTTCTTGCTTGCACCTGTCTGGGCAGTGGACTCGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCC... |
Task1_train_48374 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | GATGAATTTAATGAATTGGCTATACAGAAAGAGTCGGCAGATAGACAAGTGTTAATGCAGGAAGAAGAAATTAAACGTCTGGAGGAGATGAACATCAACATCAGGAAAAAAGTGGCCCAGCTCCAGGAAGAAGTGGAAAAACAGAAAAACATCGTGAAAGGGCTGGAACAGGTAAAGCGTCTCCATGTTGTGGTTGGGCACGTGGTGAGGTGTCCCGCAGGCATGGCTTCATCGCTGAGCTGGCAGGGAGTGGGCAGGGCGTCCTTCTTCACTGGCAGCCACCACGTCTGCACCAGAAACACTGGCGTCAGGGAGAAACA... | GATGAATTTAATGAATTGGCTATACAGAAAGAGTCGGCAGATAGACAAGTGTTAATGCAGGAAGAAGAAATTAAACGTCTGGAGGAGATGAACATCAACATCAGGAAAAAAGTGGCCCAGCTCCAGGAAGAAGTGGAAAAACAGAAAAACATCGTGAAAGGGCTGGAACAGGTAAAGCGTCTCCATGTTGTGGTTGGGCACGTGGTGAGGTGTCCCGCAGGCATGGCTTCATCGCTGAGCTGGCAGGGAGTGGGCAGGGCGTCCTTCTTCACTGGCAGCCACCACGTCTGCACCAGAAACACTGGCGTCAGGGAGAAACA... |
Task1_train_48375 | This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign? | Benign | CATAGTTTTACTTTGCATTCAGGTCTCCTTGAATATGCTTGCATACGCTTTTTGCTTTTTATTTTTCTTTTTTGACACTATCTTGCTCTGTCGCCCAGGCTGCGGTGCAGTGGCGCAGTCTCGGCTTACCGCAACCTCTGCCTCCAGAGTTTAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGAACTACAGGTGCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGT... | CATAGTTTTACTTTGCATTCAGGTCTCCTTGAATATGCTTGCATACGCTTTTTGCTTTTTATTTTTCTTTTTTGACACTATCTTGCTCTGTCGCCCAGGCTGCGGTGCAGTGGCGCAGTCTCGGCTTACCGCAACCTCTGCCTCCAGAGTTTAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGAACTACAGGTGCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGT... |
Task1_train_48376 | A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCACCCTCCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCC... | TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCACCCTCCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCC... |
Task1_train_48377 | This variant is located on Chromosome 21. Evaluate its biological effect and specify any disease association. | Benign | AGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCC... | AGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCC... |
Task1_train_48378 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | TCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACAC... | TCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACAC... |
Task1_train_48379 | A variant affecting Chromosome 21 has been observed. Determine if it's benign or associated with disease. | Benign | GCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCC... | GCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCC... |
Task1_train_48380 | A variant was discovered on Chromosome 21. What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Benign | ACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCCCCCTCCTCCCTGCTGTTTGCTAAATGTGCCCCAACTACTCCTCCAGGCTCTGAAACCCAGAGGCTCTAACACCAGAAGTGCTGGGCAGGTGTTTTATGGTCTCTAG... | ACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCCCCCTCCTCCCTGCTGTTTGCTAAATGTGCCCCAACTACTCCTCCAGGCTCTGAAACCCAGAGGCTCTAACACCAGAAGTGCTGGGCAGGTGTTTTATGGTCTCTAG... |
Task1_train_48381 | A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | GAGAACTTCCTCGTCTCCCTGGTGGTTGTCGGTTGGTTGGCTGGGTGCAGACACTTGGGTTGGAAGGTATCGCGTGCCTGTCCACTGCCTCTGTGCCCGCGCCCTCCAGTGACGCACAACCTTTGAGGGGCCTGCGCGGTCAGGGTGTCCGCCGCCTCTGTGCCTGCGCCCTCCAGTGACACGCGACCTTGGAGGCCTGCGCGGTCGGGGTGGAGGATTTCCTCCTCGTTCGTCCTTCCTCCATTCACGTATCCTATGATTTTCTCTCTTCTTTTTGTAATTCCTGTTATTCAACTATATCAGGCCTCCAAGATTGATTG... | GAGAACTTCCTCGTCTCCCTGGTGGTTGTCGGTTGGTTGGCTGGGTGCAGACACTTGGGTTGGAAGGTATCGCGTGCCTGTCCACTGCCTCTGTGCCCGCGCCCTCCAGTGACGCACAACCTTTGAGGGGCCTGCGCGGTCAGGGTGTCCGCCGCCTCTGTGCCTGCGCCCTCCAGTGACACGCGACCTTGGAGGCCTGCGCGGTCGGGGTGGAGGATTTCCTCCTCGTTCGTCCTTCCTCCATTCACGTATCCTATGATTTTCTCTCTTCTTTTTGTAATTCCTGTTATTCAACTATATCAGGCCTCCAAGATTGATTG... |
Task1_train_48382 | A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | GCCTGCGGGGAGGCTGAGAGTGGTCCCTCCTGGCCATGTGGCCCTGCGGACTCGGCCCATTCCAGCACTTGTCCCCCAGGGCCTCTCCTCCTGCCACTCGGGTGACTTGCCCTCCGGCCTCATTCCTCCCCTTGGGTCTCTCCTACCTCCCCCTCCACACCCCAAGCCCCAGCAACTGGACCTCAGGGCCTCACCTCTGTGCTGTCGACCCCGCACCCCACTTTTCCCCAAGTCCTCCCCATCTCCCTGCCTGTCTGCTTCCATCACCAGGGCTTGTGGAGGTTGTGGAGTGGGTGCCAACTCCCATCACGCTCCCTCCC... | GCCTGCGGGGAGGCTGAGAGTGGTCCCTCCTGGCCATGTGGCCCTGCGGACTCGGCCCATTCCAGCACTTGTCCCCCAGGGCCTCTCCTCCTGCCACTCGGGTGACTTGCCCTCCGGCCTCATTCCTCCCCTTGGGTCTCTCCTACCTCCCCCTCCACACCCCAAGCCCCAGCAACTGGACCTCAGGGCCTCACCTCTGTGCTGTCGACCCCGCACCCCACTTTTCCCCAAGTCCTCCCCATCTCCCTGCCTGTCTGCTTCCATCACCAGGGCTTGTGGAGGTTGTGGAGTGGGTGCCAACTCCCATCACGCTCCCTCCC... |
Task1_train_48383 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | TCTCCCGGCCAGGTGGGTGGGCCCTGGAAGGAAATGGGCCCAGAGGGCAGAATTGAGCATCCTGGTTCCACCCGCAGTGAAAGCTTCTAGTCCACAGAACCTCCTTTCTTCCCGAAGCACATACACCTCACGCCCCCACGAGTCTGTCTCTAACCTGGTGTCACTTGTGCAGCACGAGGAGCTCATGGGGGCCTGTTACTGTTCTTTTGTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAG... | TCTCCCGGCCAGGTGGGTGGGCCCTGGAAGGAAATGGGCCCAGAGGGCAGAATTGAGCATCCTGGTTCCACCCGCAGTGAAAGCTTCTAGTCCACAGAACCTCCTTTCTTCCCGAAGCACATACACCTCACGCCCCCACGAGTCTGTCTCTAACCTGGTGTCACTTGTGCAGCACGAGGAGCTCATGGGGGCCTGTTACTGTTCTTTTGTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAG... |
Task1_train_48384 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | GAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGC... | GAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGC... |
Task1_train_48385 | Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | AGATCTTTTGAAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGA... | AGATCTTTTGAAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGA... |
Task1_train_48386 | A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | CAACTAGATACACATTTAGGCTCATTTGTTTCACTTTATTTTCAATTTTGGGGATTTCTCTTTTATTCAGTTTTGATTTATAACTAAGGAAATATTTACAAGATTCCAAAGTTAGATCTACAAACAAAGAAATATTTAAAGAAATCTAGGACCAACATGTGAGGATAGACAGAGAGAGCTTCTATTCCTTTTACCCCCACTGAAAACAAACAAAAACATGAAACTTAATTTGTTACTTTATAAACAGTCTTGTAAAAAGTATTTTTACTGCTGTCCTTCCTGTGTAGATGTCCACACTGAAGCCGTGCAAGCAGCTTTGG... | CAACTAGATACACATTTAGGCTCATTTGTTTCACTTTATTTTCAATTTTGGGGATTTCTCTTTTATTCAGTTTTGATTTATAACTAAGGAAATATTTACAAGATTCCAAAGTTAGATCTACAAACAAAGAAATATTTAAAGAAATCTAGGACCAACATGTGAGGATAGACAGAGAGAGCTTCTATTCCTTTTACCCCCACTGAAAACAAACAAAAACATGAAACTTAATTTGTTACTTTATAAACAGTCTTGTAAAAAGTATTTTTACTGCTGTCCTTCCTGTGTAGATGTCCACACTGAAGCCGTGCAAGCAGCTTTGG... |
Task1_train_48387 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | ATGACAGGTAATGCTCCCAGCCTGCCTGGGCCCCATGGATACCCAGTGGCAAAGTGATGCAAACCAGGTCTGCACTGACTATGCACCCCCGGGACCCAGGCATTAGAGGACGGCGGGGCCAAGTCAGGCCTACCGGGACACCTGGATGGGCACATGAGAGGACAGCTGGCTACATTGGGCCATCTGCACCAAGAGGAAGAGGAGAGCTGTGTGCCCCACTCCGGGCGTGCCTCCCAGGGGAGCTCAGTGTCTATCTCTGTGCGCCCGTGTCCCCAGGGCTGCAGTTAACATCCCTTTATCTGTCACACAACCAGGAAGAA... | ATGACAGGTAATGCTCCCAGCCTGCCTGGGCCCCATGGATACCCAGTGGCAAAGTGATGCAAACCAGGTCTGCACTGACTATGCACCCCCGGGACCCAGGCATTAGAGGACGGCGGGGCCAAGTCAGGCCTACCGGGACACCTGGATGGGCACATGAGAGGACAGCTGGCTACATTGGGCCATCTGCACCAAGAGGAAGAGGAGAGCTGTGTGCCCCACTCCGGGCGTGCCTCCCAGGGGAGCTCAGTGTCTATCTCTGTGCGCCCGTGTCCCCAGGGCTGCAGTTAACATCCCTTTATCTGTCACACAACCAGGAAGAA... |
Task1_train_48388 | This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | AAAATTCAAAGTCAAATTTGGAGCGGCCTCTAAACTTCCTGACCTGACATGAGCACATCAGTCCTGCAGGCCAGCTTCTGAGGGACGTTATTTTAATGTCACTGAATCAAGAGAGTCTCGTGTCATGTTTTCTTTAACAAGGGACATAGCTCTCCTCCTTCCAGATCCTCCCCGGCGTGAAGGTCATCATCGCACACACCGAGACCAAAGGACCCTTGGGAGACTCACACCTGGGAGAGGTGAGCAGGGGCCCATGGGAGGGGCTTGAGCTCTCCAGCCTCACCAGCTTCACCTTCCTTCCCTTTTTGCTTCAGATTTTG... | AAAATTCAAAGTCAAATTTGGAGCGGCCTCTAAACTTCCTGACCTGACATGAGCACATCAGTCCTGCAGGCCAGCTTCTGAGGGACGTTATTTTAATGTCACTGAATCAAGAGAGTCTCGTGTCATGTTTTCTTTAACAAGGGACATAGCTCTCCTCCTTCCAGATCCTCCCCGGCGTGAAGGTCATCATCGCACACACCGAGACCAAAGGACCCTTGGGAGACTCACACCTGGGAGAGGTGAGCAGGGGCCCATGGGAGGGGCTTGAGCTCTCCAGCCTCACCAGCTTCACCTTCCTTCCCTTTTTGCTTCAGATTTTG... |
Task1_train_48389 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | TGTGCCACGTCCTGGACACCGAAGGGAGTGCCACTGGTGTGTGAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGA... | TGTGCCACGTCCTGGACACCGAAGGGAGTGCCACTGGTGTGTGAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGA... |
Task1_train_48390 | A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | GAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGAGCAGGACGGTGCCTCCCAGCCCTGAGCCGCAGGGAGTGGGCC... | GAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGAGCAGGACGGTGCCTCCCAGCCCTGAGCCGCAGGGAGTGGGCC... |
Task1_train_48391 | A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | GGTGGGGCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATT... | GGTGGGGCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATT... |
Task1_train_48392 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | GCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATTCCTTTT... | GCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATTCCTTTT... |
Task1_train_48393 | Chromosome 22 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | CAGGTATGCATCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGGGTACAATAGTGTCATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAAATAGCTGGGATTACAGGCATGTGCCATCACATCCGGCTACTGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGCTGATCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTAAAGGCTTGAGC... | CAGGTATGCATCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGGGTACAATAGTGTCATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAAATAGCTGGGATTACAGGCATGTGCCATCACATCCGGCTACTGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGCTGATCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTAAAGGCTTGAGC... |
Task1_train_48394 | A mutation on Chromosome 22 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | TCCTCCCAAAGTGCTGGAGATAACAGACATGAGTCACCACACTTAGCATATTCACTATTTTTATGAGTTCAACGTTTTTAGATTTTACATGTAATTGTGACCATGCTATATTTGTTTTTCTGTGCCTGTCTTATTTCACTGAGCATGTTTTCCAATTCCATTCATTTTATCATAAATAAATAACAGCACTTTCTCTTTTTTTAAGGCTGTATAGTATATTCCATTGTGTATATGTGCCACGCTTTATCTGCTGATCTGTTGATGAGCACTTGGGTTGTTTCCTTATCTTGGCTATTGTGAATAATGCTGACATGAATATA... | TCCTCCCAAAGTGCTGGAGATAACAGACATGAGTCACCACACTTAGCATATTCACTATTTTTATGAGTTCAACGTTTTTAGATTTTACATGTAATTGTGACCATGCTATATTTGTTTTTCTGTGCCTGTCTTATTTCACTGAGCATGTTTTCCAATTCCATTCATTTTATCATAAATAAATAACAGCACTTTCTCTTTTTTTAAGGCTGTATAGTATATTCCATTGTGTATATGTGCCACGCTTTATCTGCTGATCTGTTGATGAGCACTTGGGTTGTTTCCTTATCTTGGCTATTGTGAATAATGCTGACATGAATATA... |
Task1_train_48395 | Here is a genetic alteration on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Benign | ACTCACACCACTTAACAACAACAAATCAAGTAAGCCTATTAAAAATGGGCAAAGGACCTGAATTTACATTTCTCAAAAAAAGACAAAAATGGTCAAGTCTATGTTTAACTATGTTTAATTTTATTTATTCATTTATTTTATTTATTTATTTTGAGATGGAGCCTCACTCTGTCACCCACGCTGGAGTGCAGTGGCGCGATCTCACCTCCCCACAACCTGTGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGATGCATGCCAACACGCCCAGCTAATTTTTATTGTATTTTTAGT... | ACTCACACCACTTAACAACAACAAATCAAGTAAGCCTATTAAAAATGGGCAAAGGACCTGAATTTACATTTCTCAAAAAAAGACAAAAATGGTCAAGTCTATGTTTAACTATGTTTAATTTTATTTATTCATTTATTTTATTTATTTATTTTGAGATGGAGCCTCACTCTGTCACCCACGCTGGAGTGCAGTGGCGCGATCTCACCTCCCCACAACCTGTGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGATGCATGCCAACACGCCCAGCTAATTTTTATTGTATTTTTAGT... |
Task1_train_48396 | This alteration occurs on Chromosome 22. Is it associated with a disease or is it a benign variant? | Benign | CAGCATAAGTCCATGTGCAGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATAGCAAAACCTTGTCTCTACAAGGTTTTACAATGTCAAAATTAGCTGGGCATGTTGGCACATGCCTGTAATCACAGGTACCTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGGGTCAAAATCATGCCAGGGCACTCCAGCCTTGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAACAACAACAAC... | CAGCATAAGTCCATGTGCAGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATAGCAAAACCTTGTCTCTACAAGGTTTTACAATGTCAAAATTAGCTGGGCATGTTGGCACATGCCTGTAATCACAGGTACCTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGGGTCAAAATCATGCCAGGGCACTCCAGCCTTGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAACAACAACAAC... |
Task1_train_48397 | Here is a mutation located on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | CAGGCAGACATTTACCTGTCTGTCTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATG... | CAGGCAGACATTTACCTGTCTGTCTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATG... |
Task1_train_48398 | A genomic variant on Chromosome 22 is under review. What is the biological outcome — benign or pathogenic? | Benign | CTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATGCAATAGAGGGAAAGGGGCACAGG... | CTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATGCAATAGAGGGAAAGGGGCACAGG... |
Task1_train_48399 | A genomic variant on Chromosome 22 is under review. What is the biological outcome — benign or pathogenic? | Benign | CTTCTGGGGAAGAGCTTTTCCTCATGTGGAGTCAGTTTGGGGTGGCCAAATTTCAGGGAGACAGGGCAGACCAGGACCGTAATGAGGAACCAGAATGGACACCACCCCCTGCCCCCCGGCACTGGGGGTCCCAGCTGGATCAGTGCTACAAAATAACTGTGATCCCAATTGATTATGTACAACGTGCCAGGCACGTCACATACACACACTCATTTAATACCCATTAAACAAGAGCAAATACAGACCCACCTCACAGAGGAAGAAGCTGCATTTCAGAGGCACTAGTAACTGCTCCAGGTCATAGTGCTCGTAGTGGCAGA... | CTTCTGGGGAAGAGCTTTTCCTCATGTGGAGTCAGTTTGGGGTGGCCAAATTTCAGGGAGACAGGGCAGACCAGGACCGTAATGAGGAACCAGAATGGACACCACCCCCTGCCCCCCGGCACTGGGGGTCCCAGCTGGATCAGTGCTACAAAATAACTGTGATCCCAATTGATTATGTACAACGTGCCAGGCACGTCACATACACACACTCATTTAATACCCATTAAACAAGAGCAAATACAGACCCACCTCACAGAGGAAGAAGCTGCATTTCAGAGGCACTAGTAACTGCTCCAGGTCATAGTGCTCGTAGTGGCAGA... |
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