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_32100
Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
ATGTTCTGTAGCTCCGTGTCATCTGTAGCGTCCTGGTTCCGGTCCAGCAGCTTGGAGATGGCCGCATCGTCATAGTGGATCACACTGCTGTCCTCCACGTCCTTGTTGTCACCTGGGGAGCAGGCAAATGCAGTGTGAGGACAAAGACTGCCCTGGTCCAGCCCCGGGGTCCCAGGAACAGACTCCCAACAATGGCCCTTCCCATCCCCAGCAGGGGCTGCAGCTGAGAGGCATGGTGACCAGACAGAGGAAACTGCGCTGTAACAGCCCCACTCGCCGCCCACCTGGCAGTCCCAGGACGCCCAAGTGAGGGCAGGTCA...
ATGTTCTGTAGCTCCGTGTCATCTGTAGCGTCCTGGTTCCGGTCCAGCAGCTTGGAGATGGCCGCATCGTCATAGTGGATCACACTGCTGTCCTCCACGTCCTTGTTGTCACCTGGGGAGCAGGCAAATGCAGTGTGAGGACAAAGACTGCCCTGGTCCAGCCCCGGGGTCCCAGGAACAGACTCCCAACAATGGCCCTTCCCATCCCCAGCAGGGGCTGCAGCTGAGAGGCATGGTGACCAGACAGAGGAAACTGCGCTGTAACAGCCCCACTCGCCGCCCACCTGGCAGTCCCAGGACGCCCAAGTGAGGGCAGGTCA...
Task1_train_32101
A variant on Chromosome 1 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTGAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCAGTCTCAAAAAAAAAAAAAAGAACCAGGGCTAGGGACAGTCCTCAAAAGAACAGCTAG...
GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTGAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCAGTCTCAAAAAAAAAAAAAAGAACCAGGGCTAGGGACAGTCCTCAAAAGAACAGCTAG...
Task1_train_32102
A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
CCCAAATGGGATGGAAGAGTGGGGATTAGCGGGGGTAGGGGGTGGGGTTTGGACTCTTTTTTTTTTTTAAGACAGTCTGGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAAGGGCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTATCTGCCCGCCTCGGCCTCCCAGAGTGCCGAGATTACAGGCGTGAGCCACCGC...
CCCAAATGGGATGGAAGAGTGGGGATTAGCGGGGGTAGGGGGTGGGGTTTGGACTCTTTTTTTTTTTTAAGACAGTCTGGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAAGGGCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTATCTGCCCGCCTCGGCCTCCCAGAGTGCCGAGATTACAGGCGTGAGCCACCGC...
Task1_train_32103
This mutation is located on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Benign
GGTGAGTTGGGGGGAGCGGGGCTTGCTTCCCTTACCCCTTGGCCTCCATGGCCTCAGCTCAGAGCCTGGGCAGGCCCTGCCCCACCCTGAGGAGCAAGACATCCGAATGTCCTCCCAGCTAAGGAGGGCAGCATGGCTCAGGGTGCAGAGAAGGGGTTCAGGGACGGACATGCGAAGCTGGAGGCGGGTGGGGGATGGAACTGCCCGGCCCTGCTCCTGGCCCCCTGGAAACCAGGCAGCCCCCCTCCCCCAGCCAATACGAAGAGAAGGACAAGGCCTTCAAGGAGCAGCTCTCTCACTTGGCCACCTTGCTGCCCACC...
GGTGAGTTGGGGGGAGCGGGGCTTGCTTCCCTTACCCCTTGGCCTCCATGGCCTCAGCTCAGAGCCTGGGCAGGCCCTGCCCCACCCTGAGGAGCAAGACATCCGAATGTCCTCCCAGCTAAGGAGGGCAGCATGGCTCAGGGTGCAGAGAAGGGGTTCAGGGACGGACATGCGAAGCTGGAGGCGGGTGGGGGATGGAACTGCCCGGCCCTGCTCCTGGCCCCCTGGAAACCAGGCAGCCCCCCTCCCCCAGCCAATACGAAGAGAAGGACAAGGCCTTCAAGGAGCAGCTCTCTCACTTGGCCACCTTGCTGCCCACC...
Task1_train_32104
This sequence variant lies on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Benign
TCTACCTCTGCAGAAATAAATTGAGGCTGGAGCCTAGCTCCTGGAGGTTTCGGGCAAGGTGGGGCCGGCTCTGCTCCTCTTCAGAGCAGCCACTTTGTGGATGTCTGCAGTTGCTCCCTCAACCCACTTCACTCCAGGTCTGCGAGTCCACTCATCCACTGAGTCTGCTCTTGCTCCAGTCGCAGCGAGCCCTCCCGTAGGTCCAGGCCTCCTCCCTTGGCCTCTCAGCAGCACTCGTGAGCATCGCCATATTCATCTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCGCCCAAACTGGAGTGCAGTGGCGTGA...
TCTACCTCTGCAGAAATAAATTGAGGCTGGAGCCTAGCTCCTGGAGGTTTCGGGCAAGGTGGGGCCGGCTCTGCTCCTCTTCAGAGCAGCCACTTTGTGGATGTCTGCAGTTGCTCCCTCAACCCACTTCACTCCAGGTCTGCGAGTCCACTCATCCACTGAGTCTGCTCTTGCTCCAGTCGCAGCGAGCCCTCCCGTAGGTCCAGGCCTCCTCCCTTGGCCTCTCAGCAGCACTCGTGAGCATCGCCATATTCATCTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCGCCCAAACTGGAGTGCAGTGGCGTGA...
Task1_train_32105
A variant affecting Chromosome 1 has been observed. Determine if it's benign or associated with disease.
Benign
CTGCCTCCTCAGCTCAGTGCCCAGATATGTTTTTCCCCAGGGCTCAGCCTTAGGCATTCTCCACAGCCTACGCTCACTCCTTGGGCGACCTCATTCAGTCCCTGGCTTTAAGACCCCATCATGACGCAGACCCCCAGCTCCCGCTCCAGCACAGTGCTTACCAGAGCTCCAGACTCATCTCCCACTGCCCCCTTCCTGGGCAGCCCTACCTGGATGTCTACAGGCACCGCGAGTTCAGCAGTGGCCAGAATGCTTGACGTCCTCCCGCAGACATGCTATTCCCATCTCCCCATCTCAGTGAATAGCACCACATTCACTCA...
CTGCCTCCTCAGCTCAGTGCCCAGATATGTTTTTCCCCAGGGCTCAGCCTTAGGCATTCTCCACAGCCTACGCTCACTCCTTGGGCGACCTCATTCAGTCCCTGGCTTTAAGACCCCATCATGACGCAGACCCCCAGCTCCCGCTCCAGCACAGTGCTTACCAGAGCTCCAGACTCATCTCCCACTGCCCCCTTCCTGGGCAGCCCTACCTGGATGTCTACAGGCACCGCGAGTTCAGCAGTGGCCAGAATGCTTGACGTCCTCCCGCAGACATGCTATTCCCATCTCCCCATCTCAGTGAATAGCACCACATTCACTCA...
Task1_train_32106
A variant on Chromosome 1 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
TGAATCATAGATTGGGGTGCGGGCCCTGGATCTCTCGAAGTGTGGCCTGGAGCTCTTCCCAGAATGTCAGTGGTCTCCTGCCACCACCACCTGTGCGTGGAGCTGAGAGCAGGCTCATGGGAGTAGACTTCTAGTGCTTCTCCATGGGGACAGGGTCTACCACCAAAGCCACCCAGCCTGGAAGCCCAGGGCTGTAAGGAAGGGAGAGGCAGCCGTGTTCACCCCACCTGCCTCCTGTGGGAAGTCCGCGTTGGATCCTAGCAGTGTCAGAGAACACAGGACCCAGGCTGCACCCTCACCAGGACCCCTCCCAATCCCAA...
TGAATCATAGATTGGGGTGCGGGCCCTGGATCTCTCGAAGTGTGGCCTGGAGCTCTTCCCAGAATGTCAGTGGTCTCCTGCCACCACCACCTGTGCGTGGAGCTGAGAGCAGGCTCATGGGAGTAGACTTCTAGTGCTTCTCCATGGGGACAGGGTCTACCACCAAAGCCACCCAGCCTGGAAGCCCAGGGCTGTAAGGAAGGGAGAGGCAGCCGTGTTCACCCCACCTGCCTCCTGTGGGAAGTCCGCGTTGGATCCTAGCAGTGTCAGAGAACACAGGACCCAGGCTGCACCCTCACCAGGACCCCTCCCAATCCCAA...
Task1_train_32107
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
CCCAAAGAAGCCTACAGCATTTATCGGGTTATTGTACCATAGGGAGGGTGGAATACACACCCATTTCTAGGACCATTGGACATAGTGTTGAAGCTCACATTGATCCTGAGATCCAAGGTCATCATCTGTCCCTCTCAGAGTGGTGACATGGTGGTGGCCAGATTGAAAGGAATCCTGGCCTTGTCTGGCTTGCAATGGGTCCACTGGGCGAGTGGCCACTGTGGCCATTTCTCTGGTCCTCGAATGTGTAATTGGAATATAGAGACTTGACACTTGGCACAGCCCCCACATTAACTCTTTGGCCTGTGGTGAGAGCTATC...
CCCAAAGAAGCCTACAGCATTTATCGGGTTATTGTACCATAGGGAGGGTGGAATACACACCCATTTCTAGGACCATTGGACATAGTGTTGAAGCTCACATTGATCCTGAGATCCAAGGTCATCATCTGTCCCTCTCAGAGTGGTGACATGGTGGTGGCCAGATTGAAAGGAATCCTGGCCTTGTCTGGCTTGCAATGGGTCCACTGGGCGAGTGGCCACTGTGGCCATTTCTCTGGTCCTCGAATGTGTAATTGGAATATAGAGACTTGACACTTGGCACAGCCCCCACATTAACTCTTTGGCCTGTGGTGAGAGCTATC...
Task1_train_32108
Here is a genetic alteration on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Benign
CATGGAGTAAATATCCAACAGTGATCCCAGGGCATGGGAGTGGGAGTTAAGGCAAATGCCAGACTGTCCAAGGCTCATTACAGGGTAGTCCTCTCATCCTCTGCTCACTAGTCCACTATATTCAGTGAGCACCCACTGTGCACCCTGTGCCTTGGGGACGTGGAGGCACGCTCAGCCCCAGCCTCGCCCTCCGGGAGCTTACAGTCTAACCCTCTGGGCACAGGGAGGTGGGAAGATGGCACGGCCTTGCTGGGAGCCTCACCCTGTTGGCTGAACAATGATTTTTTCAATAATGCCTACAGCTTCCTTCATATCCTGCC...
CATGGAGTAAATATCCAACAGTGATCCCAGGGCATGGGAGTGGGAGTTAAGGCAAATGCCAGACTGTCCAAGGCTCATTACAGGGTAGTCCTCTCATCCTCTGCTCACTAGTCCACTATATTCAGTGAGCACCCACTGTGCACCCTGTGCCTTGGGGACGTGGAGGCACGCTCAGCCCCAGCCTCGCCCTCCGGGAGCTTACAGTCTAACCCTCTGGGCACAGGGAGGTGGGAAGATGGCACGGCCTTGCTGGGAGCCTCACCCTGTTGGCTGAACAATGATTTTTTCAATAATGCCTACAGCTTCCTTCATATCCTGCC...
Task1_train_32109
A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
ACACCATGTCCACAGAGCAATGCACACACATTCATCAGTACAAAGAAGCATGTGCACAAATGCGTACCCCCTCAAACATACACAAATGCACGATCGCCTCGGCAGACTGCAGGCTTGTGTGTACACACACCCTGACCGTGCCCTGAGCATGGGCGTCCGTCCACTTGCAATGCCTGCTTCACGCCGCCAGATGGTGGCCTCCAGACCTGGCAGGGGTGCCCTGCAAAGATTGGATGTGGCCATCCGTACTCCCAAGGAGTAGACCCTCCCCTTCCAGGTGACCCTGCCCTCTAGACACACCAAAGCCTCCAGTGCTTCCC...
ACACCATGTCCACAGAGCAATGCACACACATTCATCAGTACAAAGAAGCATGTGCACAAATGCGTACCCCCTCAAACATACACAAATGCACGATCGCCTCGGCAGACTGCAGGCTTGTGTGTACACACACCCTGACCGTGCCCTGAGCATGGGCGTCCGTCCACTTGCAATGCCTGCTTCACGCCGCCAGATGGTGGCCTCCAGACCTGGCAGGGGTGCCCTGCAAAGATTGGATGTGGCCATCCGTACTCCCAAGGAGTAGACCCTCCCCTTCCAGGTGACCCTGCCCTCTAGACACACCAAAGCCTCCAGTGCTTCCC...
Task1_train_32110
A variant found on Chromosome 1 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
TGTGGTGTGGCAGCCCCCTGGGGTCCTGCTGGAGCCTGGGACCTTGCAGTTCTCAAGCCCAAGGCAAAGCCACCCCAGGGCCAATTCATAAAAGGTGACTCGGGTCACAAGGCCACTGGGCAAGGGAGGCATGGGAGGGACACCGAACCTGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCG...
TGTGGTGTGGCAGCCCCCTGGGGTCCTGCTGGAGCCTGGGACCTTGCAGTTCTCAAGCCCAAGGCAAAGCCACCCCAGGGCCAATTCATAAAAGGTGACTCGGGTCACAAGGCCACTGGGCAAGGGAGGCATGGGAGGGACACCGAACCTGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCG...
Task1_train_32111
A variant was discovered on Chromosome 1. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
GTAATTGAGCCAGAGTGGACTCGGGAGGGGCAGGCTTGGGAGCTAAGGCCACACTGGACTCCACCATGGGTGCCAGATCCCGGGGTGACAAGATTCCCGTCCCCTTCGAATCCCTCGAGAAAAGTCCAGTCCACTTAACACCCCAGCCCCGCAGAAACGCCAAGAAGCCGTTTTTGTTTTGTTTTGTTTTCTTTCACAGATTTAATACCGCGATCTCAGCCAAACTCCGGCCGAGAAGTTGAGAAATGTCTTCACCCCCTCTCGACATTCGTTCGTGCTTCTTCGCCTTGGCTGGAGCGATAGGGGCGAGCAGGGGTGGG...
GTAATTGAGCCAGAGTGGACTCGGGAGGGGCAGGCTTGGGAGCTAAGGCCACACTGGACTCCACCATGGGTGCCAGATCCCGGGGTGACAAGATTCCCGTCCCCTTCGAATCCCTCGAGAAAAGTCCAGTCCACTTAACACCCCAGCCCCGCAGAAACGCCAAGAAGCCGTTTTTGTTTTGTTTTGTTTTCTTTCACAGATTTAATACCGCGATCTCAGCCAAACTCCGGCCGAGAAGTTGAGAAATGTCTTCACCCCCTCTCGACATTCGTTCGTGCTTCTTCGCCTTGGCTGGAGCGATAGGGGCGAGCAGGGGTGGG...
Task1_train_32112
A genetic alteration is present on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
TGGGGCTCTCCTTCCATTGAACTGTTAGCTCCTGTGTACGAATCTGAACTCCAGCTGACTGAGCACCCCTTGAGGGCAGGCACTGTGCTGGTCTCATCCACTGATGACTCTGCTCCCAACACCTCTGTCCACTAGGGCTACCCGGTGCTGGCCGCGTGCCAAGCTCCAGGGATCATAGTAAGGCTTGATCTTCCAGCTCCAGAAGGCAGCCCAGAATCACACAGTGAGGTTCTTACCGGTGGTGGGGTCAGAGCCTCCATCCCAGCTTCATCTGCTGACAGACACAGAGAGATTGCGGTCAGCCACCAGGCAAGCCTCCT...
TGGGGCTCTCCTTCCATTGAACTGTTAGCTCCTGTGTACGAATCTGAACTCCAGCTGACTGAGCACCCCTTGAGGGCAGGCACTGTGCTGGTCTCATCCACTGATGACTCTGCTCCCAACACCTCTGTCCACTAGGGCTACCCGGTGCTGGCCGCGTGCCAAGCTCCAGGGATCATAGTAAGGCTTGATCTTCCAGCTCCAGAAGGCAGCCCAGAATCACACAGTGAGGTTCTTACCGGTGGTGGGGTCAGAGCCTCCATCCCAGCTTCATCTGCTGACAGACACAGAGAGATTGCGGTCAGCCACCAGGCAAGCCTCCT...
Task1_train_32113
Given this variant on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
TGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACC...
TGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACC...
Task1_train_32114
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
CAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAG...
CAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAG...
Task1_train_32115
A genomic change on Chromosome 1 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
ACAGGATGACCCAGATTCCTGAAGGCAGCCTTGAGCACCAGGTGCCCCCACTTCTACACCCTTCAGGAGTGATCTTCAACTGTGCTTGTGGGGCTTGAAGTGAGGGTGATGGGATTGATCCCTCAACCCCTGCAGCTCTTTCTGGTTTCTGTCTTAATCTATCGTAAAACAAAGTGCAAAAACTCCAGCCCGGGCCACACAGTGAGATCCTGCCTCTACAAAAAACAAACAAAATTAGCCGGGTGTGGTGGCGCTCTCTTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAAGATTGCTGGAGCCCAGGAGGTTGAGG...
ACAGGATGACCCAGATTCCTGAAGGCAGCCTTGAGCACCAGGTGCCCCCACTTCTACACCCTTCAGGAGTGATCTTCAACTGTGCTTGTGGGGCTTGAAGTGAGGGTGATGGGATTGATCCCTCAACCCCTGCAGCTCTTTCTGGTTTCTGTCTTAATCTATCGTAAAACAAAGTGCAAAAACTCCAGCCCGGGCCACACAGTGAGATCCTGCCTCTACAAAAAACAAACAAAATTAGCCGGGTGTGGTGGCGCTCTCTTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAAGATTGCTGGAGCCCAGGAGGTTGAGG...
Task1_train_32116
This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant?
Benign
GCAGCCTTTTAAATTTTTTAATTTTATTTAATTTTTATTTATTTATTTATTTTTGGGACAGTATCAGCTTACCACAACCTCCACCTCCCAGGTTAAAGCAATTCTCCTGCCTCTGCCTCCAGAGTAGCTGGGATTACAGGCGTGTGCCACCACATCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTAGGCCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTAGACAGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCGCTACCTCAGGTGATCCACCCACCTCAGCCTCCAAAAGTGCTGGGATTACA...
GCAGCCTTTTAAATTTTTTAATTTTATTTAATTTTTATTTATTTATTTATTTTTGGGACAGTATCAGCTTACCACAACCTCCACCTCCCAGGTTAAAGCAATTCTCCTGCCTCTGCCTCCAGAGTAGCTGGGATTACAGGCGTGTGCCACCACATCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTAGGCCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTAGACAGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCGCTACCTCAGGTGATCCACCCACCTCAGCCTCCAAAAGTGCTGGGATTACA...
Task1_train_32117
A variant was discovered on Chromosome 1. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
CTCATTCCTCACTGAAGTCAGAGATACGCTCATGAAATGCAAGTCCCGGCCGGGCACCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGCTCATGAGGTCAGGAGTTGGAAACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTGCTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTTCTTGAACCCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCACGCCACCGCACTCCATCCTGGGCGACAGAG...
CTCATTCCTCACTGAAGTCAGAGATACGCTCATGAAATGCAAGTCCCGGCCGGGCACCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGCTCATGAGGTCAGGAGTTGGAAACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTGCTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTTCTTGAACCCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCACGCCACCGCACTCCATCCTGGGCGACAGAG...
Task1_train_32118
This mutation occurs on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Benign
CCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGCTCATGAGGTCAGGAGTTGGAAACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTGCTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTTCTTGAACCCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCACGCCACCGCACTCCATCCTGGGCGACAGAGCAAGACTCTGTCTCAGAAAGAAAAGAAAAAATGCAAGTCCGAACATAGCACTTCTCTGCGGACATCCTTAGGGAC...
CCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGCTCATGAGGTCAGGAGTTGGAAACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTGCTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTTCTTGAACCCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCACGCCACCGCACTCCATCCTGGGCGACAGAGCAAGACTCTGTCTCAGAAAGAAAAGAAAAAATGCAAGTCCGAACATAGCACTTCTCTGCGGACATCCTTAGGGAC...
Task1_train_32119
This sequence variant lies on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Benign
GTGAGTCACTGCACCCAACCTTTTTCTTTGTTTTTGAGACAGGGTCTCACTCTGTTGCTCAGGCTCTGTACAGTGGTGCAGTCATGGCTCGCAGCAGCCTCAACCTCCCAGGATCAAGCCATCCTCCCACCTGAGCCTCCCAAGTGGCTGGGACCACAAGCATGTGCTACCATGCCCAGCTAATTAAAAATTTTTTTTTTTTTTTTTTTTAGAAATGGGGGTCTTGCTATCTTGCCCAGTCTGGTCTCAAACTCTTGGATTCAGGGGATTCTCCTGCCTTGGCCCCACAAAGTGCTGGAATTATAGGCGGGAGCCACCGC...
GTGAGTCACTGCACCCAACCTTTTTCTTTGTTTTTGAGACAGGGTCTCACTCTGTTGCTCAGGCTCTGTACAGTGGTGCAGTCATGGCTCGCAGCAGCCTCAACCTCCCAGGATCAAGCCATCCTCCCACCTGAGCCTCCCAAGTGGCTGGGACCACAAGCATGTGCTACCATGCCCAGCTAATTAAAAATTTTTTTTTTTTTTTTTTTTAGAAATGGGGGTCTTGCTATCTTGCCCAGTCTGGTCTCAAACTCTTGGATTCAGGGGATTCTCCTGCCTTGGCCCCACAAAGTGCTGGAATTATAGGCGGGAGCCACCGC...
Task1_train_32120
Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
TCCTGTGACATCAGGCGAGGCTGCTGGAGCTCAGACGTACACCTCACTCACTCGGTGTTGGAACTATGCACTGCTTGACATTTGCTTACTCAGCAAAGACACAAGCAACTGTATTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCGGGCTGGAGTGCAATGGAGCGATCCTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCACCCGCCACCACCCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGAT...
TCCTGTGACATCAGGCGAGGCTGCTGGAGCTCAGACGTACACCTCACTCACTCGGTGTTGGAACTATGCACTGCTTGACATTTGCTTACTCAGCAAAGACACAAGCAACTGTATTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCGGGCTGGAGTGCAATGGAGCGATCCTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCACCCGCCACCACCCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGAT...
Task1_train_32121
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
CTGCTTGACATTTGCTTACTCAGCAAAGACACAAGCAACTGTATTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCGGGCTGGAGTGCAATGGAGCGATCCTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCACCCGCCACCACCCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACGGCACCTGGCTGAATTTTTTTTTTTATATTTTTTGAGACGG...
CTGCTTGACATTTGCTTACTCAGCAAAGACACAAGCAACTGTATTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCGGGCTGGAGTGCAATGGAGCGATCCTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCACCCGCCACCACCCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACGGCACCTGGCTGAATTTTTTTTTTTATATTTTTTGAGACGG...
Task1_train_32122
This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
GCTGGGGTACAGTGGTGCAATCTCAGCTCATTGCAGCCTCAACCTCCCGGGTTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGCCCTGGGATTGCAGGTGTGAGTCACATCGGCTCCTTTTCCTCTTCTTGTGTCTGGAAGCACTGCTTTTTTTTTTTTGAGACAGAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAAAGGCGCCCGCCACCGCTCCCGGCTAATTCTTTGCATTTTTAGTAGAG...
GCTGGGGTACAGTGGTGCAATCTCAGCTCATTGCAGCCTCAACCTCCCGGGTTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGCCCTGGGATTGCAGGTGTGAGTCACATCGGCTCCTTTTCCTCTTCTTGTGTCTGGAAGCACTGCTTTTTTTTTTTTGAGACAGAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAAAGGCGCCCGCCACCGCTCCCGGCTAATTCTTTGCATTTTTAGTAGAG...
Task1_train_32123
A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
CACATGCATGCCATTGCTCTGGTGGGTTCTTTTTCTGGTCATTTGGACTTGTCTCTACTAATAAAGTATTCATTAACTTGAAACTCCTACCTCTGAATGTAGATGCAGGTGAAAGCAGAGAAATACCAAACCCACCCCTTCCTGATGAAGTGCAACATGCCCCACCCAGCTGCATCTCACCTGCTGCCTCCCCTCCTCCTCCCCTGATGTGTGGACACTCTTTCTGTCCGTTCCTACTTGCTGTTCCCTTCTCTGCACGAGTCCTTCCCCTGGAGGGCAGCCCGCATGCCACTCCTCCCATGCACCTTTTCTTGGGAACT...
CACATGCATGCCATTGCTCTGGTGGGTTCTTTTTCTGGTCATTTGGACTTGTCTCTACTAATAAAGTATTCATTAACTTGAAACTCCTACCTCTGAATGTAGATGCAGGTGAAAGCAGAGAAATACCAAACCCACCCCTTCCTGATGAAGTGCAACATGCCCCACCCAGCTGCATCTCACCTGCTGCCTCCCCTCCTCCTCCCCTGATGTGTGGACACTCTTTCTGTCCGTTCCTACTTGCTGTTCCCTTCTCTGCACGAGTCCTTCCCCTGGAGGGCAGCCCGCATGCCACTCCTCCCATGCACCTTTTCTTGGGAACT...
Task1_train_32124
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
GGTGCAGGCCCTGGGCATGGATGGTTTCATTGGGCACAGACACTGGGCACTCATGGTTTCATTGGGTGCAGGCACTGGGCATGGATGGTTTCATTGGGTGTATGCCCTGGGCACTCATGGTTTCACTGGGCACAGGCCCTGGGCACTCATGGTTTCATTGGGCGCAGACACTGGGCACTTATTGTTTCATTGGGTGCAGACACTGGGCATGGATGGTTTCATTGGGTGCAGGCCCTGGGCACTCATGCTTTCATTGGGCGCAGGCACTGGGCACTCATGGTTTCATTGGGCGCAGGCACTGGGCACTCATGGTTTCACTG...
GGTGCAGGCCCTGGGCATGGATGGTTTCATTGGGCACAGACACTGGGCACTCATGGTTTCATTGGGTGCAGGCACTGGGCATGGATGGTTTCATTGGGTGTATGCCCTGGGCACTCATGGTTTCACTGGGCACAGGCCCTGGGCACTCATGGTTTCATTGGGCGCAGACACTGGGCACTTATTGTTTCATTGGGTGCAGACACTGGGCATGGATGGTTTCATTGGGTGCAGGCCCTGGGCACTCATGCTTTCATTGGGCGCAGGCACTGGGCACTCATGGTTTCATTGGGCGCAGGCACTGGGCACTCATGGTTTCACTG...
Task1_train_32125
A variant was discovered on Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
AGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAGAAGAAGAAAGAGAGTGAAAGAGCCGCTATACCCGCCAGTGGAAACATTAGGAAAGCTACTCTGCTCCACTGTCTCACAACAGTTTACTGCCTACAGGAAGGCTAGAACCACTTTTTTTTGTTTAAGGCTGTGTACACTTTCCCCAAGACGAATCGGCATGAAGTTCCTAATCAGAGTGTCAGCCCTAATAGATAGACTCGTGTCTGTAGAGCTGTGGACTTCAGAGAAGTGCTACTGAGCTGAA...
AGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAGAAGAAGAAAGAGAGTGAAAGAGCCGCTATACCCGCCAGTGGAAACATTAGGAAAGCTACTCTGCTCCACTGTCTCACAACAGTTTACTGCCTACAGGAAGGCTAGAACCACTTTTTTTTGTTTAAGGCTGTGTACACTTTCCCCAAGACGAATCGGCATGAAGTTCCTAATCAGAGTGTCAGCCCTAATAGATAGACTCGTGTCTGTAGAGCTGTGGACTTCAGAGAAGTGCTACTGAGCTGAA...
Task1_train_32126
A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TTGGCTCATTGTCCTTTATAGGAAGTTTTTAGTGCTTAAGCCTGGAGGTTTTTTCTTCTCTCTAAACTACTACATCTACAATGGTGGCCACTTGCCACATGTGGCAATTTAAATTCAAATTCAATACAATTAAATGTAATACAATTAACATTTAGTTTCTCAGTTGCTTTAGCCATATTCCAAGTGTTTAATAGTTACGTTAGCACATATAATACTAGTCAGCACAAATAATCCATCAGTCATCACAGAAAGTTCTGTTGGACACAGGCTCCACCTGGGAGATGCTGTGTACTTCACACAGCATCACGTAAGATGCACAG...
TTGGCTCATTGTCCTTTATAGGAAGTTTTTAGTGCTTAAGCCTGGAGGTTTTTTCTTCTCTCTAAACTACTACATCTACAATGGTGGCCACTTGCCACATGTGGCAATTTAAATTCAAATTCAATACAATTAAATGTAATACAATTAACATTTAGTTTCTCAGTTGCTTTAGCCATATTCCAAGTGTTTAATAGTTACGTTAGCACATATAATACTAGTCAGCACAAATAATCCATCAGTCATCACAGAAAGTTCTGTTGGACACAGGCTCCACCTGGGAGATGCTGTGTACTTCACACAGCATCACGTAAGATGCACAG...
Task1_train_32127
A variant found on Chromosome 1 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
GAATCATCTATGTTCTAGTTTCTTATATACTTTGTGAGGTTTTTTCCAAAGTGCTATCTTTTAAGTTTTCATGTGAACTGGATTCCCTCTACTCTTTAAAATTCGTTACAGGTATTACGCTTAAGTGTTCATTGCCTATAACACGTATTTGTTTACTTACAACCGGGGTTATGGTCAGGTGAGATAGGAATAAGCCATATTGACAATTTAACGATTGTACTTCTTCATGCACAGTCACAGGACAACAGGTGTGTATGAAGAGGTAGGAGCTATTTTATTTGTTATCAGTAGAGTAGGCAGTTTATAGTTTCACACTTAAA...
GAATCATCTATGTTCTAGTTTCTTATATACTTTGTGAGGTTTTTTCCAAAGTGCTATCTTTTAAGTTTTCATGTGAACTGGATTCCCTCTACTCTTTAAAATTCGTTACAGGTATTACGCTTAAGTGTTCATTGCCTATAACACGTATTTGTTTACTTACAACCGGGGTTATGGTCAGGTGAGATAGGAATAAGCCATATTGACAATTTAACGATTGTACTTCTTCATGCACAGTCACAGGACAACAGGTGTGTATGAAGAGGTAGGAGCTATTTTATTTGTTATCAGTAGAGTAGGCAGTTTATAGTTTCACACTTAAA...
Task1_train_32128
Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GTATGTTTGGTATCATAAAGGTGATTAATTTGCTTTCTGATGGCTTCTTTTTTCCTTAAAAAATAGGTGAGATTGAGGCAGGAAATAGAGAGGTTGAAAATAGTCATTGCTGGGGGTAGGTTAGTGCATGACCAGAGAACTGTAGCAGGATTCCCAGGTATTTTGATGGTGCATTTGAGGTTGGTGATGATGCGTTTATTGTAGAAACACTGTACCCTGTTATATGTGACTTTCTGTATGTATTTGGCGACTTGGGTTTAGGTAAGAACAAAGTCAATAATTGGCTTTATTGGAGTTGGCATTTTGACAGTTATGAAAAG...
GTATGTTTGGTATCATAAAGGTGATTAATTTGCTTTCTGATGGCTTCTTTTTTCCTTAAAAAATAGGTGAGATTGAGGCAGGAAATAGAGAGGTTGAAAATAGTCATTGCTGGGGGTAGGTTAGTGCATGACCAGAGAACTGTAGCAGGATTCCCAGGTATTTTGATGGTGCATTTGAGGTTGGTGATGATGCGTTTATTGTAGAAACACTGTACCCTGTTATATGTGACTTTCTGTATGTATTTGGCGACTTGGGTTTAGGTAAGAACAAAGTCAATAATTGGCTTTATTGGAGTTGGCATTTTGACAGTTATGAAAAG...
Task1_train_32129
Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
ATTTATTTTCCAGGTAACAATGAACAGGGTGTAGTTTGCCTAGTTTTTCTCCACACTGTTTTCAAATCAAGCATTGTGTTATTTTTCATATTCTAAGATGGGTGTTTCTGAGCTGACTAACAGATGCTTATTTCACTTCAGACACAGTATTTCCAGAAGCAATCAGGAGTCTCACGTTTCTTGTATGGTTTCCAGATTCTGGCCAAAAGATGACTCAGTAAAATGTTAGGATCTTGTCCAGAGAAATCCTGAAACTAAAACAATCCAAACGAACAACAACAACAAAAAAAAACAGATAAGTTACCAACGAGTGACGATTC...
ATTTATTTTCCAGGTAACAATGAACAGGGTGTAGTTTGCCTAGTTTTTCTCCACACTGTTTTCAAATCAAGCATTGTGTTATTTTTCATATTCTAAGATGGGTGTTTCTGAGCTGACTAACAGATGCTTATTTCACTTCAGACACAGTATTTCCAGAAGCAATCAGGAGTCTCACGTTTCTTGTATGGTTTCCAGATTCTGGCCAAAAGATGACTCAGTAAAATGTTAGGATCTTGTCCAGAGAAATCCTGAAACTAAAACAATCCAAACGAACAACAACAACAAAAAAAAACAGATAAGTTACCAACGAGTGACGATTC...
Task1_train_32130
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
AGAAAGATCGTTTACAATCTTCCTATAAAGCCAGTAGGATGGTATCACCTCTTCTTTTACTGAACTTCAAGATTTCAATACAATTATTATACTTAGAATTGGCTTCAAAATCATCTGTAAGGAACTTGATTGTGGCATTTCCTATGTGAAATGTGGTCGACCAGATGGCATATAGAATGCATGGTAAGTGCGCTTAAGGTGTGTGGAAAGGGCACACCGGAGTGTGAGGCGTGGTAAGTGCAGACCTGCTGCTGTGTTGCGATTCGAGGCTGTGGGAGTCAGGGTGGGAGGCCATGTGTGGGACCAGCGTGCCACAGGCT...
AGAAAGATCGTTTACAATCTTCCTATAAAGCCAGTAGGATGGTATCACCTCTTCTTTTACTGAACTTCAAGATTTCAATACAATTATTATACTTAGAATTGGCTTCAAAATCATCTGTAAGGAACTTGATTGTGGCATTTCCTATGTGAAATGTGGTCGACCAGATGGCATATAGAATGCATGGTAAGTGCGCTTAAGGTGTGTGGAAAGGGCACACCGGAGTGTGAGGCGTGGTAAGTGCAGACCTGCTGCTGTGTTGCGATTCGAGGCTGTGGGAGTCAGGGTGGGAGGCCATGTGTGGGACCAGCGTGCCACAGGCT...
Task1_train_32131
Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
AATCTTCCTATAAAGCCAGTAGGATGGTATCACCTCTTCTTTTACTGAACTTCAAGATTTCAATACAATTATTATACTTAGAATTGGCTTCAAAATCATCTGTAAGGAACTTGATTGTGGCATTTCCTATGTGAAATGTGGTCGACCAGATGGCATATAGAATGCATGGTAAGTGCGCTTAAGGTGTGTGGAAAGGGCACACCGGAGTGTGAGGCGTGGTAAGTGCAGACCTGCTGCTGTGTTGCGATTCGAGGCTGTGGGAGTCAGGGTGGGAGGCCATGTGTGGGACCAGCGTGCCACAGGCTTACAAATAGCTGCAA...
AATCTTCCTATAAAGCCAGTAGGATGGTATCACCTCTTCTTTTACTGAACTTCAAGATTTCAATACAATTATTATACTTAGAATTGGCTTCAAAATCATCTGTAAGGAACTTGATTGTGGCATTTCCTATGTGAAATGTGGTCGACCAGATGGCATATAGAATGCATGGTAAGTGCGCTTAAGGTGTGTGGAAAGGGCACACCGGAGTGTGAGGCGTGGTAAGTGCAGACCTGCTGCTGTGTTGCGATTCGAGGCTGTGGGAGTCAGGGTGGGAGGCCATGTGTGGGACCAGCGTGCCACAGGCTTACAAATAGCTGCAA...
Task1_train_32132
A genomic change on Chromosome 1 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
TTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACTTTGCTCCCTCATTCTGAGTTCCATCTCCAGGAGCAAAAAGCTCTAGAAGGGTCAACTGGGGCCAAGAAGGAACACGTATCTGGGGGTGGGAATGAGAGCCAGCCCTCTGCACCTGTGGGTTTGCA...
TTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACTTTGCTCCCTCATTCTGAGTTCCATCTCCAGGAGCAAAAAGCTCTAGAAGGGTCAACTGGGGCCAAGAAGGAACACGTATCTGGGGGTGGGAATGAGAGCCAGCCCTCTGCACCTGTGGGTTTGCA...
Task1_train_32133
A genomic variant on Chromosome 1 is under review. What is the biological outcome — benign or pathogenic?
Benign
AAACATCTGCTTCCTGCAGAGTCTGCCCCAGTTCAGCTGCTCCGGAAGCATTCCTTCAGGGTGAACGGGATGATCTGTTAAGTCAAGGGCAACGGAATTAGGGACATCCTGGGAGGTTCAGAAAGTCCAGCCAGCTCTGAACAACCGCTCTGTTCCTGAGGACAGTGATCTTACACATGGCAGTGCCTCGGAAGCCTGGGGCATTCTGCTTCACTTGGCCAAGCAGTGCAGGCAGGTGGTTCAGAGGTGAAGGAAGAGAGAATTCAGACAATGAAGTCCTTGTCCTTCCCAGGCTCTGCCCAGCCTCTGAGACAGTGGGC...
AAACATCTGCTTCCTGCAGAGTCTGCCCCAGTTCAGCTGCTCCGGAAGCATTCCTTCAGGGTGAACGGGATGATCTGTTAAGTCAAGGGCAACGGAATTAGGGACATCCTGGGAGGTTCAGAAAGTCCAGCCAGCTCTGAACAACCGCTCTGTTCCTGAGGACAGTGATCTTACACATGGCAGTGCCTCGGAAGCCTGGGGCATTCTGCTTCACTTGGCCAAGCAGTGCAGGCAGGTGGTTCAGAGGTGAAGGAAGAGAGAATTCAGACAATGAAGTCCTTGTCCTTCCCAGGCTCTGCCCAGCCTCTGAGACAGTGGGC...
Task1_train_32134
Given this context: Chromosome 1 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CCAGGTGCCGTGGCTCACCTATAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATTGCTTGAGCCCAGGAGTTTCAGACCAGCCTGGGCAACATGGTGAAATTCTGTCTCTACAAATAAACTTAAAAATTAGCTGGACATGGTGGTGTGTGCCTGTAGTCCCTGCTACTTGAGGGGCTGAGGCAGGAGGATTGTTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCTGAGGTCATGCCACTGCACTCCAGGCTGGGTGACAGAGTAAGACCCTGCCTCAATTAAAATCTTTTTTAAAAAGCACAGTAACAGGCTCAGGG...
CCAGGTGCCGTGGCTCACCTATAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATTGCTTGAGCCCAGGAGTTTCAGACCAGCCTGGGCAACATGGTGAAATTCTGTCTCTACAAATAAACTTAAAAATTAGCTGGACATGGTGGTGTGTGCCTGTAGTCCCTGCTACTTGAGGGGCTGAGGCAGGAGGATTGTTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCTGAGGTCATGCCACTGCACTCCAGGCTGGGTGACAGAGTAAGACCCTGCCTCAATTAAAATCTTTTTTAAAAAGCACAGTAACAGGCTCAGGG...
Task1_train_32135
A sequence alteration has been identified on Chromosome 1. Is it disease-inducing or harmless?
Benign
AGACTTTAAATACTAAACTCTGAAATCATGAAACTGCACCAACAAAAAGGGGTACCTGCATTTGAATACCATGTATTGCAGTCACCATAATGATTTTTACAAAGGAAGAAACTTGGATCTGAAGGTTTTTCTTTGTTGTTGTTGTTGTTTTTGAGACAGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCCCTGCTCACTGCAATCTCCACCTCCCAAGTTCAAGTGATTCTCCTGACTCGGCCTCCCAAGTAGCTGACATTACAGGTACCCACCACCATGCCCAGCTCATTTTTGTATTTTTTAA...
AGACTTTAAATACTAAACTCTGAAATCATGAAACTGCACCAACAAAAAGGGGTACCTGCATTTGAATACCATGTATTGCAGTCACCATAATGATTTTTACAAAGGAAGAAACTTGGATCTGAAGGTTTTTCTTTGTTGTTGTTGTTGTTTTTGAGACAGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCCCTGCTCACTGCAATCTCCACCTCCCAAGTTCAAGTGATTCTCCTGACTCGGCCTCCCAAGTAGCTGACATTACAGGTACCCACCACCATGCCCAGCTCATTTTTGTATTTTTTAA...
Task1_train_32136
Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Benign
CTTTGGTCTCCCCAAGAAGAGGAGGATTCTAAGAAAGGAGCTGGAGAGACAGTGGGGTCTTCGGGGGTTCCCTGAGACGCCTCTTCCTGCCCTTGTTCCAGCTTTGGAATTGGAAGGAGGGAACCTGTGTCTGAAGTGATTGACAGGTGGGGACAGGAGTGTGGATTCTGGCCTGTGCTTGACACTCAAACCCAAGCTACGGCAAGGGTTAGCAGCCCATGGAGGGAGAGGCCAGGAGGCCCGGGGAGACTGCTGTCCCTGAGCAGCTGCGCCGGGCTGTGCTTGCCCCTGGTGGTCACCATGCAACCTCAGGGGAACCT...
CTTTGGTCTCCCCAAGAAGAGGAGGATTCTAAGAAAGGAGCTGGAGAGACAGTGGGGTCTTCGGGGGTTCCCTGAGACGCCTCTTCCTGCCCTTGTTCCAGCTTTGGAATTGGAAGGAGGGAACCTGTGTCTGAAGTGATTGACAGGTGGGGACAGGAGTGTGGATTCTGGCCTGTGCTTGACACTCAAACCCAAGCTACGGCAAGGGTTAGCAGCCCATGGAGGGAGAGGCCAGGAGGCCCGGGGAGACTGCTGTCCCTGAGCAGCTGCGCCGGGCTGTGCTTGCCCCTGGTGGTCACCATGCAACCTCAGGGGAACCT...
Task1_train_32137
A change on Chromosome 1 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
AAGAGGAGGATTCTAAGAAAGGAGCTGGAGAGACAGTGGGGTCTTCGGGGGTTCCCTGAGACGCCTCTTCCTGCCCTTGTTCCAGCTTTGGAATTGGAAGGAGGGAACCTGTGTCTGAAGTGATTGACAGGTGGGGACAGGAGTGTGGATTCTGGCCTGTGCTTGACACTCAAACCCAAGCTACGGCAAGGGTTAGCAGCCCATGGAGGGAGAGGCCAGGAGGCCCGGGGAGACTGCTGTCCCTGAGCAGCTGCGCCGGGCTGTGCTTGCCCCTGGTGGTCACCATGCAACCTCAGGGGAACCTTCAACCTGGTGAATGG...
AAGAGGAGGATTCTAAGAAAGGAGCTGGAGAGACAGTGGGGTCTTCGGGGGTTCCCTGAGACGCCTCTTCCTGCCCTTGTTCCAGCTTTGGAATTGGAAGGAGGGAACCTGTGTCTGAAGTGATTGACAGGTGGGGACAGGAGTGTGGATTCTGGCCTGTGCTTGACACTCAAACCCAAGCTACGGCAAGGGTTAGCAGCCCATGGAGGGAGAGGCCAGGAGGCCCGGGGAGACTGCTGTCCCTGAGCAGCTGCGCCGGGCTGTGCTTGCCCCTGGTGGTCACCATGCAACCTCAGGGGAACCTTCAACCTGGTGAATGG...
Task1_train_32138
An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Benign
TTACCAGATTATGGCTTCCTAAAGTTGTTAAAGATTTTGTTAATCCTTTACCTGGTAAATGCCTGACATATAATAGGCGCTAAATCAGCCATTCAGTTCCTTCGTCACTGCTCCCACCTGCAGGCTGAGCCCCATTTCCACCGTGGATTTCTGACTAGTTCCCATGGGCATGCCGGCCGTGATGACTTTCCCCCTCACTTCCTTCTTCCTTTCCCTCCAACACTGGCCTTGGTTGGAAGCTAGAGAGCCAGAGAGCTGTGGAGGAAGAATTCAGTGCAGGAAGCCCTACAACCTTGGTTAGAACAGAAGGGCAGAACAAA...
TTACCAGATTATGGCTTCCTAAAGTTGTTAAAGATTTTGTTAATCCTTTACCTGGTAAATGCCTGACATATAATAGGCGCTAAATCAGCCATTCAGTTCCTTCGTCACTGCTCCCACCTGCAGGCTGAGCCCCATTTCCACCGTGGATTTCTGACTAGTTCCCATGGGCATGCCGGCCGTGATGACTTTCCCCCTCACTTCCTTCTTCCTTTCCCTCCAACACTGGCCTTGGTTGGAAGCTAGAGAGCCAGAGAGCTGTGGAGGAAGAATTCAGTGCAGGAAGCCCTACAACCTTGGTTAGAACAGAAGGGCAGAACAAA...
Task1_train_32139
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CAGAACCATCTGACGGAGGTCCTCACCCTCGTGGCCATGGAGCTGCCCCACAATGTCAGCAGTGCGGAGGCTGTGCTGCGGCACAAGCTTCAGGTCTTCCAGGCGCTGCGGGGCCTGCAGAGGGGCAGTGCCGTCGTGGGCCAGTACCAGTCTTACAGTGAGCAGGTGCGCAGAGAGCTGCAGAAGCCAGACAGCTTCCACAGCCTGACGCCGACCTTCGCAGGTGGGCCCTGGGGCTGGGCATGGGGCACTGGGCTGCCCACTTCGCCGGGAGCAGCTTTCCAAATGCAGACGCCCTTGGGTGGAGTGGAGGGGACTTG...
CAGAACCATCTGACGGAGGTCCTCACCCTCGTGGCCATGGAGCTGCCCCACAATGTCAGCAGTGCGGAGGCTGTGCTGCGGCACAAGCTTCAGGTCTTCCAGGCGCTGCGGGGCCTGCAGAGGGGCAGTGCCGTCGTGGGCCAGTACCAGTCTTACAGTGAGCAGGTGCGCAGAGAGCTGCAGAAGCCAGACAGCTTCCACAGCCTGACGCCGACCTTCGCAGGTGGGCCCTGGGGCTGGGCATGGGGCACTGGGCTGCCCACTTCGCCGGGAGCAGCTTTCCAAATGCAGACGCCCTTGGGTGGAGTGGAGGGGACTTG...
Task1_train_32140
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
GTTCAGGCCTCCAAGGCAGGGGCTCCTGCCCACAGAGAAGAACAGGCAATCTCCCTGTTAAGGCTCAAGGCAGGGACACAGTAGCGACCTGTCTGAGGTAGCAGCAGAGGTCTTGGGGCGCAAGCTTGTCTTGGAGTGTCCGGTGACAGATGGGACCCCAGTCTCCATTACCAGAGTGGGTCGGGGGGAGGAGCCCGGTCTCCATCGCCAGAGGGTGGGTCGGGGGCAGGAGTTCCTGCAGGGCTTTGGCTCATGTATTCAGAGACGCGCTGGACCGGGCTCAGGTGCTGTGGCCAGAATCCAGCTTGCTGTCTCCCTGT...
GTTCAGGCCTCCAAGGCAGGGGCTCCTGCCCACAGAGAAGAACAGGCAATCTCCCTGTTAAGGCTCAAGGCAGGGACACAGTAGCGACCTGTCTGAGGTAGCAGCAGAGGTCTTGGGGCGCAAGCTTGTCTTGGAGTGTCCGGTGACAGATGGGACCCCAGTCTCCATTACCAGAGTGGGTCGGGGGGAGGAGCCCGGTCTCCATCGCCAGAGGGTGGGTCGGGGGCAGGAGTTCCTGCAGGGCTTTGGCTCATGTATTCAGAGACGCGCTGGACCGGGCTCAGGTGCTGTGGCCAGAATCCAGCTTGCTGTCTCCCTGT...
Task1_train_32141
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TGTCTGAGGTCACACTCTCTGCCCACTCACCTCCTTGGCTGACATCGGTTGTGTTTGGTGCTGACACTCTGATCCCGAAGCCAGGGAGCCCCAAGGGGCTGCATGACCCTGGGGTGCCCCACACAGTTCAGCCCTGCCTGGCAGGGACGCCAGTACTACTGTAACTGCAGCAGGAGCTGCCCGGCCTGCCTTCTGGCCCCACGCCCACAGGCGTAGTCACATCTTTGTACTGTACTCCCCTGTCTCACCTGGGGCAACCTCAGAGCCCCACTAAGCTGAAGGCCCCCTGGGGGAGGGGGAAGCATGGTCCTTATCATCTG...
TGTCTGAGGTCACACTCTCTGCCCACTCACCTCCTTGGCTGACATCGGTTGTGTTTGGTGCTGACACTCTGATCCCGAAGCCAGGGAGCCCCAAGGGGCTGCATGACCCTGGGGTGCCCCACACAGTTCAGCCCTGCCTGGCAGGGACGCCAGTACTACTGTAACTGCAGCAGGAGCTGCCCGGCCTGCCTTCTGGCCCCACGCCCACAGGCGTAGTCACATCTTTGTACTGTACTCCCCTGTCTCACCTGGGGCAACCTCAGAGCCCCACTAAGCTGAAGGCCCCCTGGGGGAGGGGGAAGCATGGTCCTTATCATCTG...
Task1_train_32142
This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
TGCAAAATATTTTTCCAGGACTAAGCCTTTCTTTAGTTTTTTGAAAATAATTAATGGTAATAGTTTCTGAGAAATAATCACTCACATAAATAAAAAAATACACCAATAAGAGATGAATGCTACCCAGCCTGACCAAAATGGTGGAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCTCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCAGTCTCG...
TGCAAAATATTTTTCCAGGACTAAGCCTTTCTTTAGTTTTTTGAAAATAATTAATGGTAATAGTTTCTGAGAAATAATCACTCACATAAATAAAAAAATACACCAATAAGAGATGAATGCTACCCAGCCTGACCAAAATGGTGGAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCTCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCAGTCTCG...
Task1_train_32143
This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
TCCTGGACTCAAGTGATCCTTCTGCCTCATCCTTTCAAGTAGCTGGGATTACAGGGCAAAACCACTGTGCTGGCCTTGGCATTTTCCATTCTGATGGAAACCAAGTAAATGGTAGAGTCTACTGCTTTATTCATCCTAAGCCACTTTGCTTTAGCCCCTAAAAAACCTGCTTTAATTTTCTCGAGGCCTTTAACATATATGGTATAAAATTGGTATATTATCAGCTTTGAGCATTTAAGGAACAGTTTAGTATCCATGAGCCCAATTTTCTCATTGAGTCTCTGGATGCAGTATGCATATGATTTCTCGGTGACCAGAAG...
TCCTGGACTCAAGTGATCCTTCTGCCTCATCCTTTCAAGTAGCTGGGATTACAGGGCAAAACCACTGTGCTGGCCTTGGCATTTTCCATTCTGATGGAAACCAAGTAAATGGTAGAGTCTACTGCTTTATTCATCCTAAGCCACTTTGCTTTAGCCCCTAAAAAACCTGCTTTAATTTTCTCGAGGCCTTTAACATATATGGTATAAAATTGGTATATTATCAGCTTTGAGCATTTAAGGAACAGTTTAGTATCCATGAGCCCAATTTTCTCATTGAGTCTCTGGATGCAGTATGCATATGATTTCTCGGTGACCAGAAG...
Task1_train_32144
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CTCGCGGGTCACATAGCCTCTACAAAATGAGAAGGGGTTCAATACCGTTAACTCCGGGCCTGGGTAAAAGACTCAAGTCCTGACCCCATCATACTCCAACCAATACATACCCCGCCTGCGCTGTCTGCGCCTGGGTCTCTTCAACCGCAGTGAGCGGTCGCACGGCTCCACATCAGGGTCGCCCTGAGGCTCAGCCTTCCCCGGCCCCATTCCGAGTGCGCACAGGACTGAACGAGCACGCCCGGTCCCTGCTCCGGAGCGGAGGACACGACGCGGACCCGCACGGTGCACCGCAGTGACCTGAGGAAGGAGCGACGGGC...
CTCGCGGGTCACATAGCCTCTACAAAATGAGAAGGGGTTCAATACCGTTAACTCCGGGCCTGGGTAAAAGACTCAAGTCCTGACCCCATCATACTCCAACCAATACATACCCCGCCTGCGCTGTCTGCGCCTGGGTCTCTTCAACCGCAGTGAGCGGTCGCACGGCTCCACATCAGGGTCGCCCTGAGGCTCAGCCTTCCCCGGCCCCATTCCGAGTGCGCACAGGACTGAACGAGCACGCCCGGTCCCTGCTCCGGAGCGGAGGACACGACGCGGACCCGCACGGTGCACCGCAGTGACCTGAGGAAGGAGCGACGGGC...
Task1_train_32145
This is a variant located on Chromosome 1. Is this mutation a likely cause of disease or not?
Benign
GCATTGGTGGATCAAGCATTGTTTCCCCACAGAAAGAAAATAAAACAAAAATTACACGTTAAAATTCAAAATGAGCTAGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGG...
GCATTGGTGGATCAAGCATTGTTTCCCCACAGAAAGAAAATAAAACAAAAATTACACGTTAAAATTCAAAATGAGCTAGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGG...
Task1_train_32146
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
GCCTTTGAAGATCATCCGGCCTCTAGCCATGGGCTCCTGTGGGCCTCCTCCAGCTCAGGCCACCCAGCCCAGTGTCCAGGGTGGCAGCCAGAGACTCAGGCCTCCTCCTGCTGGCTTTCCCTCTAGGTGTCAGGCTTCCCCAGGCGTGGGGGCCGCCGTCCCAGGGCAGCGGCTGCCCGCAGGGGAACCGCCTGGTAGGGCTGGTGGGGGCTGGTCTTGGAGTCATGGCTCGGATTCGAGAAGGGAAATCATCTGAGCTTTTAAAAAATTAAATGGAGTCAGTAATTTGATTTCAGAGAGAAGCTGAAAACCTCGTAATG...
GCCTTTGAAGATCATCCGGCCTCTAGCCATGGGCTCCTGTGGGCCTCCTCCAGCTCAGGCCACCCAGCCCAGTGTCCAGGGTGGCAGCCAGAGACTCAGGCCTCCTCCTGCTGGCTTTCCCTCTAGGTGTCAGGCTTCCCCAGGCGTGGGGGCCGCCGTCCCAGGGCAGCGGCTGCCCGCAGGGGAACCGCCTGGTAGGGCTGGTGGGGGCTGGTCTTGGAGTCATGGCTCGGATTCGAGAAGGGAAATCATCTGAGCTTTTAAAAAATTAAATGGAGTCAGTAATTTGATTTCAGAGAGAAGCTGAAAACCTCGTAATG...
Task1_train_32147
The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TTTATTTCTTGTTCCGGGCGGGCGTTGCCGACGGTCTCCTCTTCTTGGCTGCATTTCAAATCCCACTTCCAGTGATGGGTCTGCCTGGAGGTGGGCGTCTGGGGGTCCACCTTTCCAGGGAAGCACTGAGTGAGTGCTCTTCCGGCCCAGAACACTGTACCCAGCCACAGCTGGGCATCTAAGCCAGGGAGCCTGGGGACAGCTGGGTCACTGAGGGTCACTGGGGCTGTCCAAGCCAGCGGGGTACCGGCTGCTGCCATGGAACCCAGAGGAAGGGAGTTATGAGTAATGAAAACGAAGCAGTGGCATCCCATTCTCCT...
TTTATTTCTTGTTCCGGGCGGGCGTTGCCGACGGTCTCCTCTTCTTGGCTGCATTTCAAATCCCACTTCCAGTGATGGGTCTGCCTGGAGGTGGGCGTCTGGGGGTCCACCTTTCCAGGGAAGCACTGAGTGAGTGCTCTTCCGGCCCAGAACACTGTACCCAGCCACAGCTGGGCATCTAAGCCAGGGAGCCTGGGGACAGCTGGGTCACTGAGGGTCACTGGGGCTGTCCAAGCCAGCGGGGTACCGGCTGCTGCCATGGAACCCAGAGGAAGGGAGTTATGAGTAATGAAAACGAAGCAGTGGCATCCCATTCTCCT...
Task1_train_32148
A variant on Chromosome 1 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
CTCCAGGCCGACCCATCACTGCCTCCCACCCTTTGCACTCTACCTCCCCAGGGTGCACCCAGGACTCACCCTGGAGTCTCCATGGAGGCTCAGCGTGAGGGCCTCTCAGAAAGCCCCTCCACACTGTCTTGAAGCTCAGGAGGCCTGTGGCTTTCAGCACTGAGGGCCAAGGTGGGCTCTGTCAGCTCCTGCTGGAGTGAGGCCCCCCGGCCAGCCTGGAAGGGGTATTCAAGCTCCACCAGGCTGGGTAGCAACACTCCTGTGGGAGCCCACAGGCTCAGGGTTTGCGTGGATGGAGGGCTGGACGTGTGTGCAACCCC...
CTCCAGGCCGACCCATCACTGCCTCCCACCCTTTGCACTCTACCTCCCCAGGGTGCACCCAGGACTCACCCTGGAGTCTCCATGGAGGCTCAGCGTGAGGGCCTCTCAGAAAGCCCCTCCACACTGTCTTGAAGCTCAGGAGGCCTGTGGCTTTCAGCACTGAGGGCCAAGGTGGGCTCTGTCAGCTCCTGCTGGAGTGAGGCCCCCCGGCCAGCCTGGAAGGGGTATTCAAGCTCCACCAGGCTGGGTAGCAACACTCCTGTGGGAGCCCACAGGCTCAGGGTTTGCGTGGATGGAGGGCTGGACGTGTGTGCAACCCC...
Task1_train_32149
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CCCACCCTTTGCACTCTACCTCCCCAGGGTGCACCCAGGACTCACCCTGGAGTCTCCATGGAGGCTCAGCGTGAGGGCCTCTCAGAAAGCCCCTCCACACTGTCTTGAAGCTCAGGAGGCCTGTGGCTTTCAGCACTGAGGGCCAAGGTGGGCTCTGTCAGCTCCTGCTGGAGTGAGGCCCCCCGGCCAGCCTGGAAGGGGTATTCAAGCTCCACCAGGCTGGGTAGCAACACTCCTGTGGGAGCCCACAGGCTCAGGGTTTGCGTGGATGGAGGGCTGGACGTGTGTGCAACCCCCCACTCCTCCTGGCCCACAGGCCA...
CCCACCCTTTGCACTCTACCTCCCCAGGGTGCACCCAGGACTCACCCTGGAGTCTCCATGGAGGCTCAGCGTGAGGGCCTCTCAGAAAGCCCCTCCACACTGTCTTGAAGCTCAGGAGGCCTGTGGCTTTCAGCACTGAGGGCCAAGGTGGGCTCTGTCAGCTCCTGCTGGAGTGAGGCCCCCCGGCCAGCCTGGAAGGGGTATTCAAGCTCCACCAGGCTGGGTAGCAACACTCCTGTGGGAGCCCACAGGCTCAGGGTTTGCGTGGATGGAGGGCTGGACGTGTGTGCAACCCCCCACTCCTCCTGGCCCACAGGCCA...
Task1_train_32150
With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
TTTCTTTAATTCCTGGTGAAAATTCAAGCCAACAAGCATTTATGAAGTGCTTACAAGGGCAAGGCGGCAAGATAAGGCCTGTCAAGAATAAGAAGCCGAACAGGACACAGCCCCTGATCTGAATGAATTCATACTAGAGGGAGAGACAGGAGCATGCACCATAACTATAATAAGAATAGAAAGACCTCGAAGCTGCAGGGAAGCTGCTGGGGAGGTGCAGGGGAGGTGTGCTGGGAACCAGGGAGGGGAGAGATTCATTCTGGTTGCTGATGTAAAATTAACAAAATGAGGAAGAGAACATTCTTTCCCCGTGTAAATCT...
TTTCTTTAATTCCTGGTGAAAATTCAAGCCAACAAGCATTTATGAAGTGCTTACAAGGGCAAGGCGGCAAGATAAGGCCTGTCAAGAATAAGAAGCCGAACAGGACACAGCCCCTGATCTGAATGAATTCATACTAGAGGGAGAGACAGGAGCATGCACCATAACTATAATAAGAATAGAAAGACCTCGAAGCTGCAGGGAAGCTGCTGGGGAGGTGCAGGGGAGGTGTGCTGGGAACCAGGGAGGGGAGAGATTCATTCTGGTTGCTGATGTAAAATTAACAAAATGAGGAAGAGAACATTCTTTCCCCGTGTAAATCT...
Task1_train_32151
An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Benign
CAAGCTCTGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACACCTGGCTAATTTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTTTTAGCCAGACTGGTCTTGATCTCCTGACCTCACGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGACTTTTTTTTTCTTTTTCTCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCTTGCCTCAG...
CAAGCTCTGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACACCTGGCTAATTTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTTTTAGCCAGACTGGTCTTGATCTCCTGACCTCACGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGACTTTTTTTTTCTTTTTCTCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCTTGCCTCAG...
Task1_train_32152
A variant found on Chromosome 1 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
GGCGCTTGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGAGAGGATTGCTTGAGCCTGAGAGGTCAAGGCTGTGGTGAGCTGTGATCGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCCAAAAAAAAAAAAAAAAAAAAAAGCCAGAGGACTGTGGTGACAAGTTTGAGAAAGCAGGTGTGATCAGACTTGCAAGTGTGTCTGTGTATCTGTCTAGCTGGTGGCCATTAGCTGGAGGAGGGCTACTAAGAGTTCTTTTGTGAGCTTCGTCTGTGTGCTGTCCATCAGCTTTCACCGCCAGCGTCAT...
GGCGCTTGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGAGAGGATTGCTTGAGCCTGAGAGGTCAAGGCTGTGGTGAGCTGTGATCGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCCAAAAAAAAAAAAAAAAAAAAAAGCCAGAGGACTGTGGTGACAAGTTTGAGAAAGCAGGTGTGATCAGACTTGCAAGTGTGTCTGTGTATCTGTCTAGCTGGTGGCCATTAGCTGGAGGAGGGCTACTAAGAGTTCTTTTGTGAGCTTCGTCTGTGTGCTGTCCATCAGCTTTCACCGCCAGCGTCAT...
Task1_train_32153
Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
AGGCTTGCCCCCATCCCTGGTGCATGCCTCTTCGCGGCGGCCAGGTGTGTGTATAGACTATAGGCTGGGGAGGCGCAGGATCTACGCTGCCGGCAACTTCATCTTCCTGCAGCTGCTTCCCAGATCTCCTGCCTCCCAGATGGCCCCGGCTGTTTCCACAACCTGGTCCACCCTCCCTTCTCTCGGGCCGGCACTGGTTGAGGGCTGCGTCGCACGTGCTTCTCACCAAAGCTTCCTAACAGGGACGGTGTGCTCCCCCTCTGACATCGGGGTAACCGGCAGAGGGCCTGCGTGGCTGCAGGTCACAGAGCTGAGGGAGG...
AGGCTTGCCCCCATCCCTGGTGCATGCCTCTTCGCGGCGGCCAGGTGTGTGTATAGACTATAGGCTGGGGAGGCGCAGGATCTACGCTGCCGGCAACTTCATCTTCCTGCAGCTGCTTCCCAGATCTCCTGCCTCCCAGATGGCCCCGGCTGTTTCCACAACCTGGTCCACCCTCCCTTCTCTCGGGCCGGCACTGGTTGAGGGCTGCGTCGCACGTGCTTCTCACCAAAGCTTCCTAACAGGGACGGTGTGCTCCCCCTCTGACATCGGGGTAACCGGCAGAGGGCCTGCGTGGCTGCAGGTCACAGAGCTGAGGGAGG...
Task1_train_32154
A change on Chromosome 1 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
CAAATGCAGACACTGATGGGTAATTAACACCACTGAGAATCCCAGGGTAGAAATAAAGGCTCAGTCTCTAAACACTCAACTCAGATGGAGCCACTGGGTCTAAATGCTCACCCTGTGGTTTGTTCTCTTGTAGATGCCATCTACGACTGCTCTTCCCTCTACCAGAAGAACTACCGCATCTCTGGAGTGTATAAGCTTCCTCCTGATGACTTCCTGGGCAGCCCTGAACTGGAGGTGAGGTCATTACAGTCACTGGCCATGCCCTAATACCTGTCCTTCACCCCCTCAAGGGGACTACAACAACAGGGCCATTCACAGTT...
CAAATGCAGACACTGATGGGTAATTAACACCACTGAGAATCCCAGGGTAGAAATAAAGGCTCAGTCTCTAAACACTCAACTCAGATGGAGCCACTGGGTCTAAATGCTCACCCTGTGGTTTGTTCTCTTGTAGATGCCATCTACGACTGCTCTTCCCTCTACCAGAAGAACTACCGCATCTCTGGAGTGTATAAGCTTCCTCCTGATGACTTCCTGGGCAGCCCTGAACTGGAGGTGAGGTCATTACAGTCACTGGCCATGCCCTAATACCTGTCCTTCACCCCCTCAAGGGGACTACAACAACAGGGCCATTCACAGTT...
Task1_train_32155
Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
AGAGGTAACGCTTGAGCAAGGACTTGCATGATGAATTCAATGTGGACCCCTAGGGGACGGGGATGGCATTCCTGGTGGAATAGCAATGGGATCAAGGGGCCTTCAGATCACCCAAGGAGTGTTGCTGTGACCCAGAATCCTGGCCTTTGACCCCCTGCAACACCAACACACTGTAAACTGTACTCCCCACAAGGCAGGCTGAGGCACGGGCAGGATGGATGGGTTTAGTTCCCAGAAAACTGCAAACACGGCCCCTCCCCTCTCCACCTTATTCCCATCAGCTTTCTTCTTCTAAGGCCAAGAATCGGGCAGAGGCTCCC...
AGAGGTAACGCTTGAGCAAGGACTTGCATGATGAATTCAATGTGGACCCCTAGGGGACGGGGATGGCATTCCTGGTGGAATAGCAATGGGATCAAGGGGCCTTCAGATCACCCAAGGAGTGTTGCTGTGACCCAGAATCCTGGCCTTTGACCCCCTGCAACACCAACACACTGTAAACTGTACTCCCCACAAGGCAGGCTGAGGCACGGGCAGGATGGATGGGTTTAGTTCCCAGAAAACTGCAAACACGGCCCCTCCCCTCTCCACCTTATTCCCATCAGCTTTCTTCTTCTAAGGCCAAGAATCGGGCAGAGGCTCCC...
Task1_train_32156
Consider a variant on Chromosome 1. Determine its clinical classification and disease relevance.
Benign
GCAAGCTGGCAGGCTCGTGTTAGGGCGTTGCAAATGGGAAGTTTAATTATTTCATTAATACGAATCTTGCATATTACAGGAGCAATTCCCACCCCTTCCAGGCCTCTCTCCTGCAAGTCTTCCGCTGCGCACCCCTCCTCTCCCCCACATCCTCAGTCATTCTTCCTTTCTGTTTCTTCTTTTGTTTCCCTATTTGCATCTCAGTCTCTCCCTCATCCCCCACCATTCCACTCTCCCTTCGGTCTCTCTCCTCTTTTCCTCTGTCTCTGTCTCTGTTTCCCTCCTTCCGTCACCTCCTCTTGCTTACTTTCTCTGGACTG...
GCAAGCTGGCAGGCTCGTGTTAGGGCGTTGCAAATGGGAAGTTTAATTATTTCATTAATACGAATCTTGCATATTACAGGAGCAATTCCCACCCCTTCCAGGCCTCTCTCCTGCAAGTCTTCCGCTGCGCACCCCTCCTCTCCCCCACATCCTCAGTCATTCTTCCTTTCTGTTTCTTCTTTTGTTTCCCTATTTGCATCTCAGTCTCTCCCTCATCCCCCACCATTCCACTCTCCCTTCGGTCTCTCTCCTCTTTTCCTCTGTCTCTGTCTCTGTTTCCCTCCTTCCGTCACCTCCTCTTGCTTACTTTCTCTGGACTG...
Task1_train_32157
Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
ATCTGGGGTCCTGAGTGTCTCTGGCTGCAGGGGGCACCCAGGCCCCCTGACTGCAGGTCCAACCTGTCCCACATCCCTCTCTTCCTTTCCATCACCAGATCCCAGCCGTCCACGACTTTGGCCTGTTCATGTCTCTCATCGTGTCCTGTTGCTGGCTGGCCGTGCTTGTCACCATGCCTGCAGCTCTGGGCCTCTGGAGCCTCTACCTGGCACCACTGGAGAGCTCCTGCCAGACCAGGTAAGTCGGGCAGGGCCTCCACCCACAGCAGGGTATCCACAACAGGCCTCTATGAGCCACTCAGTGCAGCAACCTCTCTTCC...
ATCTGGGGTCCTGAGTGTCTCTGGCTGCAGGGGGCACCCAGGCCCCCTGACTGCAGGTCCAACCTGTCCCACATCCCTCTCTTCCTTTCCATCACCAGATCCCAGCCGTCCACGACTTTGGCCTGTTCATGTCTCTCATCGTGTCCTGTTGCTGGCTGGCCGTGCTTGTCACCATGCCTGCAGCTCTGGGCCTCTGGAGCCTCTACCTGGCACCACTGGAGAGCTCCTGCCAGACCAGGTAAGTCGGGCAGGGCCTCCACCCACAGCAGGGTATCCACAACAGGCCTCTATGAGCCACTCAGTGCAGCAACCTCTCTTCC...
Task1_train_32158
This mutation is located on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Benign
CTGTCTCACTAGCTCACATCTCTCCCCACAGACCACGTACAAGGGCAAATCCTCCTTCCAGACCTACTCGGACTACCTGCGCTGGGAGAGCTTCCTCCAGCAGCAGCTGCAGGCCTTGCCCGAGGGCTCAGTCCTGCGCCGGGGCTTCCAGACCTGCGAGCACTGGAAGCAGATATTCATGGAAATCGTAGGCAAGCGGCAGCCTCGCCCCTCCATCCTGGGTGGGCAGGAGGCAGAGGGACCTGGGGCCGGGAGGGCACAGAGCGGCCTGAGTCACAATCTCCATCCTGGCCAAGAGCCCTGAGGAAACCGGGTGGCAC...
CTGTCTCACTAGCTCACATCTCTCCCCACAGACCACGTACAAGGGCAAATCCTCCTTCCAGACCTACTCGGACTACCTGCGCTGGGAGAGCTTCCTCCAGCAGCAGCTGCAGGCCTTGCCCGAGGGCTCAGTCCTGCGCCGGGGCTTCCAGACCTGCGAGCACTGGAAGCAGATATTCATGGAAATCGTAGGCAAGCGGCAGCCTCGCCCCTCCATCCTGGGTGGGCAGGAGGCAGAGGGACCTGGGGCCGGGAGGGCACAGAGCGGCCTGAGTCACAATCTCCATCCTGGCCAAGAGCCCTGAGGAAACCGGGTGGCAC...
Task1_train_32159
Located on Chromosome 1, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GCAGTGGGTCCAGTCCAAGCTCACGCCCTCACGGATCTACATTCTAGAAGCCGGCTACCTAAGCAAACCTATGCCAACAAAACTTCTCTCTCCCTGCTCAGGGGCTGGGATCGGAGCAAGGGATGGGAGGAGGATGTGTGGCTTGGGGAAGGTGAGGACGCTATGGACTAAGTTAAGGCCTATCTACCCTCGACCTTTGCCCCTCCAGGCAGCTGGGGGAGAGTGGAGGCAGGGTCGCTCAGGGTTCTACCCACACGCTGCTGTTGGTCACCCGGGCCCCGAACCAGCCCTTCCAGTAGACGGAGTCCTGCCCCCCGTGC...
GCAGTGGGTCCAGTCCAAGCTCACGCCCTCACGGATCTACATTCTAGAAGCCGGCTACCTAAGCAAACCTATGCCAACAAAACTTCTCTCTCCCTGCTCAGGGGCTGGGATCGGAGCAAGGGATGGGAGGAGGATGTGTGGCTTGGGGAAGGTGAGGACGCTATGGACTAAGTTAAGGCCTATCTACCCTCGACCTTTGCCCCTCCAGGCAGCTGGGGGAGAGTGGAGGCAGGGTCGCTCAGGGTTCTACCCACACGCTGCTGTTGGTCACCCGGGCCCCGAACCAGCCCTTCCAGTAGACGGAGTCCTGCCCCCCGTGC...
Task1_train_32160
This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CGTCTTTACTAAAAATACAAAATTACCCAGGCGTGGTGGCACATGCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAACAAAAAAAGAAAAGAAAAGAAAAAAAATTCCAAAAGGTTGACTGACTGTTACTAATTACTAGTATTGATTACTACTGTTTTCTAGACTGGGGTCAGCAAATATTTGTTTGTTTGTTTGTTTGTTTTAATTTACTTAACATATTTTTAGGGACAGG...
CGTCTTTACTAAAAATACAAAATTACCCAGGCGTGGTGGCACATGCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAACAAAAAAAGAAAAGAAAAGAAAAAAAATTCCAAAAGGTTGACTGACTGTTACTAATTACTAGTATTGATTACTACTGTTTTCTAGACTGGGGTCAGCAAATATTTGTTTGTTTGTTTGTTTGTTTTAATTTACTTAACATATTTTTAGGGACAGG...
Task1_train_32161
This variant is present on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Benign
GATGGGAGCCTTCAGAAGACCATGAACTGCTGCTTTGGCCAAGCCTCTATGGAAAATCAGAAGAGGCCACAGCAAAAGGCTGGGTACAGTGGCTCACACCTGTAATCCCAGACTTCAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATCACAGTTACTTGAGAGGCTGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGATTGCAGTGAGCCGAGATCACGCCAT...
GATGGGAGCCTTCAGAAGACCATGAACTGCTGCTTTGGCCAAGCCTCTATGGAAAATCAGAAGAGGCCACAGCAAAAGGCTGGGTACAGTGGCTCACACCTGTAATCCCAGACTTCAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATCACAGTTACTTGAGAGGCTGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGATTGCAGTGAGCCGAGATCACGCCAT...
Task1_train_32162
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TCACAAGGAGAGCAGGGGGTGAAGTCTGGCAGTGGTCAGGCTAAATGCCAGCCCAGAGAGCAGCCCCGCTCCACTGGCCCCGAAGCAGGATTGAGGTTCCCTCTGCGCCGAACAATGCTTGAGTGACAGGCCTTTAAAATGGGCCCCTCCTCCCCCTGGGCTGCCTCAGGAACCAGGGACACAGGTCCCGCTTGCTGAGCTCTGGCCTCAAGAGCACTTGTTAGGGAAGGGCTGGAGGCAAGGCCAGTGGGACAGAGCCTTCCGTTGCTGGTGACGTGACCAGGACAGTAGCAGGGACTGTGGTGCAGGGTCTGTGGCCT...
TCACAAGGAGAGCAGGGGGTGAAGTCTGGCAGTGGTCAGGCTAAATGCCAGCCCAGAGAGCAGCCCCGCTCCACTGGCCCCGAAGCAGGATTGAGGTTCCCTCTGCGCCGAACAATGCTTGAGTGACAGGCCTTTAAAATGGGCCCCTCCTCCCCCTGGGCTGCCTCAGGAACCAGGGACACAGGTCCCGCTTGCTGAGCTCTGGCCTCAAGAGCACTTGTTAGGGAAGGGCTGGAGGCAAGGCCAGTGGGACAGAGCCTTCCGTTGCTGGTGACGTGACCAGGACAGTAGCAGGGACTGTGGTGCAGGGTCTGTGGCCT...
Task1_train_32163
A variant on Chromosome 1 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
TTTCTTTCTTTCTTCCTTCTCTTTCTCTCTTTCTTTCTTTTCTTTCTTTCCTTACTTTCTCTTTCTGGCAGGATCTTGCTCTGTCCCCCAGGCTGTAGTGCAGTGGCATGATCTTGGCTCACTGTACACTTGACCTCACTGGCTCAAGTGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGGCTATAGATGTACTCCACCATACCTGGCTAATTTTTTGATTTTTTGTAGAGATAGGATCTTACTTTGTTAGCCAGGTTGTTCTCGAACTCCTGGGCTCAAGCAGTCTTCTCCCTCCACCTCCTAAAGTGTTGGGATTA...
TTTCTTTCTTTCTTCCTTCTCTTTCTCTCTTTCTTTCTTTTCTTTCTTTCCTTACTTTCTCTTTCTGGCAGGATCTTGCTCTGTCCCCCAGGCTGTAGTGCAGTGGCATGATCTTGGCTCACTGTACACTTGACCTCACTGGCTCAAGTGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGGCTATAGATGTACTCCACCATACCTGGCTAATTTTTTGATTTTTTGTAGAGATAGGATCTTACTTTGTTAGCCAGGTTGTTCTCGAACTCCTGGGCTCAAGCAGTCTTCTCCCTCCACCTCCTAAAGTGTTGGGATTA...
Task1_train_32164
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
GTATTGGCCCAGAGCCCCCCTCCCAGGCAGGCCAGCCTATAGGGCCTGGCTAATTCCAGAGATCAGCCACCCACGGTCGGCTGGACATAGGACAGAGTCTTCCCAGCCTGGGGCCTAAGGAGGGGGGTCTTGGGAGAGTGAGGTCAGGAAGAGGCCTGGCTGGTGCCCCTGGCTAAGATGGGGCCCCCACAGCTCGGTCCTGGGGACATCCCTTCTCAGGCTGCTGAGGCTTTAAGAAAGCCACAGAGGGCCGGGCGTGGTGGCTCACGCTTGTAATCCCAGAACTTTGAGAGGCCAAGGTGGGTGGATCACCTGTGGTC...
GTATTGGCCCAGAGCCCCCCTCCCAGGCAGGCCAGCCTATAGGGCCTGGCTAATTCCAGAGATCAGCCACCCACGGTCGGCTGGACATAGGACAGAGTCTTCCCAGCCTGGGGCCTAAGGAGGGGGGTCTTGGGAGAGTGAGGTCAGGAAGAGGCCTGGCTGGTGCCCCTGGCTAAGATGGGGCCCCCACAGCTCGGTCCTGGGGACATCCCTTCTCAGGCTGCTGAGGCTTTAAGAAAGCCACAGAGGGCCGGGCGTGGTGGCTCACGCTTGTAATCCCAGAACTTTGAGAGGCCAAGGTGGGTGGATCACCTGTGGTC...
Task1_train_32165
Located on Chromosome 1, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GAGAGTTTGCCATCCAGCAGAGCAACCTGAGCATCAACGAGACCAGCAGCCCCCACCTCTGCCCAGAGCCTGGGGGAAGCTCTGGGCCCCACAAGCTTCCCTGGGGTCCTCTCCTATCCCAAGAGCCACTGGCTCGCCCATCTTCCTGCCTGAGGCAGTCCGGGCTGCCGGCCCCAGGCACCCCTAGCGGGGACTTCAGGCCCACTGAAGCCTTTGCCCCTCTCGATGGGCATACACAGCCAGGCCTCAGATCCTGGGGTGGTCTGGGGAGCTGGAGGTCCAGGCTGGTGGGGGAACCTCTCACCCTGGAGGACCTGGCT...
GAGAGTTTGCCATCCAGCAGAGCAACCTGAGCATCAACGAGACCAGCAGCCCCCACCTCTGCCCAGAGCCTGGGGGAAGCTCTGGGCCCCACAAGCTTCCCTGGGGTCCTCTCCTATCCCAAGAGCCACTGGCTCGCCCATCTTCCTGCCTGAGGCAGTCCGGGCTGCCGGCCCCAGGCACCCCTAGCGGGGACTTCAGGCCCACTGAAGCCTTTGCCCCTCTCGATGGGCATACACAGCCAGGCCTCAGATCCTGGGGTGGTCTGGGGAGCTGGAGGTCCAGGCTGGTGGGGGAACCTCTCACCCTGGAGGACCTGGCT...
Task1_train_32166
This variant is located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Benign
CTGGGCCCCACAAGCTTCCCTGGGGTCCTCTCCTATCCCAAGAGCCACTGGCTCGCCCATCTTCCTGCCTGAGGCAGTCCGGGCTGCCGGCCCCAGGCACCCCTAGCGGGGACTTCAGGCCCACTGAAGCCTTTGCCCCTCTCGATGGGCATACACAGCCAGGCCTCAGATCCTGGGGTGGTCTGGGGAGCTGGAGGTCCAGGCTGGTGGGGGAACCTCTCACCCTGGAGGACCTGGCTGTCCCCAGTCAGAACCAGACTCAGGCCCCATCCCGTGCTGCCGTCCACCAGCTGCTGGCTTCTGTACATTGCCTGGCGCAG...
CTGGGCCCCACAAGCTTCCCTGGGGTCCTCTCCTATCCCAAGAGCCACTGGCTCGCCCATCTTCCTGCCTGAGGCAGTCCGGGCTGCCGGCCCCAGGCACCCCTAGCGGGGACTTCAGGCCCACTGAAGCCTTTGCCCCTCTCGATGGGCATACACAGCCAGGCCTCAGATCCTGGGGTGGTCTGGGGAGCTGGAGGTCCAGGCTGGTGGGGGAACCTCTCACCCTGGAGGACCTGGCTGTCCCCAGTCAGAACCAGACTCAGGCCCCATCCCGTGCTGCCGTCCACCAGCTGCTGGCTTCTGTACATTGCCTGGCGCAG...
Task1_train_32167
A variant was discovered on Chromosome 1. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
CACTGGCTCGCCCATCTTCCTGCCTGAGGCAGTCCGGGCTGCCGGCCCCAGGCACCCCTAGCGGGGACTTCAGGCCCACTGAAGCCTTTGCCCCTCTCGATGGGCATACACAGCCAGGCCTCAGATCCTGGGGTGGTCTGGGGAGCTGGAGGTCCAGGCTGGTGGGGGAACCTCTCACCCTGGAGGACCTGGCTGTCCCCAGTCAGAACCAGACTCAGGCCCCATCCCGTGCTGCCGTCCACCAGCTGCTGGCTTCTGTACATTGCCTGGCGCAGGAGGCAGCCCGACTCAGGTGCCAGGCTCCCCAGGAACCCCCCGGT...
CACTGGCTCGCCCATCTTCCTGCCTGAGGCAGTCCGGGCTGCCGGCCCCAGGCACCCCTAGCGGGGACTTCAGGCCCACTGAAGCCTTTGCCCCTCTCGATGGGCATACACAGCCAGGCCTCAGATCCTGGGGTGGTCTGGGGAGCTGGAGGTCCAGGCTGGTGGGGGAACCTCTCACCCTGGAGGACCTGGCTGTCCCCAGTCAGAACCAGACTCAGGCCCCATCCCGTGCTGCCGTCCACCAGCTGCTGGCTTCTGTACATTGCCTGGCGCAGGAGGCAGCCCGACTCAGGTGCCAGGCTCCCCAGGAACCCCCCGGT...
Task1_train_32168
Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
GCCAGGAAATCAAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACAGGTCAAGACCCTGTCTCAAAAAAACAAGCTGAAAAGCAGCCTAAATGCTCAACAGTGAGTGAGGAAATGATGGTTTGACCATGTGATGAACAATTAGCAACCATCCAATATGATGTTTAGGAAGTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC...
GCCAGGAAATCAAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACAGGTCAAGACCCTGTCTCAAAAAAACAAGCTGAAAAGCAGCCTAAATGCTCAACAGTGAGTGAGGAAATGATGGTTTGACCATGTGATGAACAATTAGCAACCATCCAATATGATGTTTAGGAAGTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC...
Task1_train_32169
Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Benign
GTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACAGGTCAAGACCCTGTCTCAAAAAAACAAGCTGAAAAGCAGCCTAAATGCTCAACAGTGAGTGAGGAAATGATGGTTTGACCATGTGATGAACAATTAGCAACCATCCAATATGATGTTTAGGAAGTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATG...
GTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACAGGTCAAGACCCTGTCTCAAAAAAACAAGCTGAAAAGCAGCCTAAATGCTCAACAGTGAGTGAGGAAATGATGGTTTGACCATGTGATGAACAATTAGCAACCATCCAATATGATGTTTAGGAAGTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATG...
Task1_train_32170
This mutation is located on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Benign
TAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTGTCGAGTATGATGGTGAACACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCATGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAGAAATAAGTAAATAAATAAATAATAAAAACATAACCACAATACCACTCTCACAACTAAAAAA...
TAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTGTCGAGTATGATGGTGAACACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCATGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAGAAATAAGTAAATAAATAAATAATAAAAACATAACCACAATACCACTCTCACAACTAAAAAA...
Task1_train_32171
Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TTCAGTGGTGATGTGAAGGATGAAGAGTTGCCTGGTGGAGGAAGATCAGAAAAGGGTAGAGTGTTCAGAGGCCTCTGGCCGGGAGTGTAAGATCCTGAGGCGTAGCAGAGCCGAATTGGACCCTTGTTAGTACAGGGTAGGGGGGCTGAGGGTAGTTGAAGATGAGATTGGAAAAATCTGTGGGGACCAGATCAGCACCTGGTTGGCTGTGGGGAGGGGCTGAAATTTGATGGTAGAGCAAGGAGGCTACCGCTGGAGGATTAGCAGGTGACTCTGATGATTTGATTTGAGATTGGAAAAACACCACTGGGTTACTGAAT...
TTCAGTGGTGATGTGAAGGATGAAGAGTTGCCTGGTGGAGGAAGATCAGAAAAGGGTAGAGTGTTCAGAGGCCTCTGGCCGGGAGTGTAAGATCCTGAGGCGTAGCAGAGCCGAATTGGACCCTTGTTAGTACAGGGTAGGGGGGCTGAGGGTAGTTGAAGATGAGATTGGAAAAATCTGTGGGGACCAGATCAGCACCTGGTTGGCTGTGGGGAGGGGCTGAAATTTGATGGTAGAGCAAGGAGGCTACCGCTGGAGGATTAGCAGGTGACTCTGATGATTTGATTTGAGATTGGAAAAACACCACTGGGTTACTGAAT...
Task1_train_32172
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
TCCCATAGGGCAGTAACTGCATCCCACTCCTCCCCGTGGCCCTGCACAGGGCCTGGCACACTGCGGTGCCCAGCCAATGTCAGGCCCTGGGAGGTGGCCTAGGGACACTGGAACAGTGATTGAGCAGAGGGCCACTGGGGGCCAGGGGGCTGCCAGAGACACAGACATGGAGCTCTACAGGGGTGGCCGGAACCCTAGTGAATGCCCGTCTCCCTGCCAAGTGTAAGTCCCTGGTGGCAGGAACCATGTCTGTCTCGCCGTCACCGCTGGCTCCCAGCTCCCTGCAGGTGCCTGGCATGTTGCAGGCACAGAATAAATAC...
TCCCATAGGGCAGTAACTGCATCCCACTCCTCCCCGTGGCCCTGCACAGGGCCTGGCACACTGCGGTGCCCAGCCAATGTCAGGCCCTGGGAGGTGGCCTAGGGACACTGGAACAGTGATTGAGCAGAGGGCCACTGGGGGCCAGGGGGCTGCCAGAGACACAGACATGGAGCTCTACAGGGGTGGCCGGAACCCTAGTGAATGCCCGTCTCCCTGCCAAGTGTAAGTCCCTGGTGGCAGGAACCATGTCTGTCTCGCCGTCACCGCTGGCTCCCAGCTCCCTGCAGGTGCCTGGCATGTTGCAGGCACAGAATAAATAC...
Task1_train_32173
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GGGCAGTAACTGCATCCCACTCCTCCCCGTGGCCCTGCACAGGGCCTGGCACACTGCGGTGCCCAGCCAATGTCAGGCCCTGGGAGGTGGCCTAGGGACACTGGAACAGTGATTGAGCAGAGGGCCACTGGGGGCCAGGGGGCTGCCAGAGACACAGACATGGAGCTCTACAGGGGTGGCCGGAACCCTAGTGAATGCCCGTCTCCCTGCCAAGTGTAAGTCCCTGGTGGCAGGAACCATGTCTGTCTCGCCGTCACCGCTGGCTCCCAGCTCCCTGCAGGTGCCTGGCATGTTGCAGGCACAGAATAAATACTGTAAAG...
GGGCAGTAACTGCATCCCACTCCTCCCCGTGGCCCTGCACAGGGCCTGGCACACTGCGGTGCCCAGCCAATGTCAGGCCCTGGGAGGTGGCCTAGGGACACTGGAACAGTGATTGAGCAGAGGGCCACTGGGGGCCAGGGGGCTGCCAGAGACACAGACATGGAGCTCTACAGGGGTGGCCGGAACCCTAGTGAATGCCCGTCTCCCTGCCAAGTGTAAGTCCCTGGTGGCAGGAACCATGTCTGTCTCGCCGTCACCGCTGGCTCCCAGCTCCCTGCAGGTGCCTGGCATGTTGCAGGCACAGAATAAATACTGTAAAG...
Task1_train_32174
This sequence change occurs on Chromosome 1. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CCTAGTGAATGCCCGTCTCCCTGCCAAGTGTAAGTCCCTGGTGGCAGGAACCATGTCTGTCTCGCCGTCACCGCTGGCTCCCAGCTCCCTGCAGGTGCCTGGCATGTTGCAGGCACAGAATAAATACTGTAAAGGAACAAGGGCAGGAGCCAGGGATCAAGCTTTTATCTCCTCTCCCATTGGCCTCATTACACAACTAGAGAAACTGAGGCTCAGAGGGCTGGAGCAGCTTGCTGTAAATCCCAGTGGGAGTCAGGAGCAAGAAGGTCCTGTGTTGAGACCTGGGTGCTGCCCCCACACAAGATGGTCACTGATGGAAT...
CCTAGTGAATGCCCGTCTCCCTGCCAAGTGTAAGTCCCTGGTGGCAGGAACCATGTCTGTCTCGCCGTCACCGCTGGCTCCCAGCTCCCTGCAGGTGCCTGGCATGTTGCAGGCACAGAATAAATACTGTAAAGGAACAAGGGCAGGAGCCAGGGATCAAGCTTTTATCTCCTCTCCCATTGGCCTCATTACACAACTAGAGAAACTGAGGCTCAGAGGGCTGGAGCAGCTTGCTGTAAATCCCAGTGGGAGTCAGGAGCAAGAAGGTCCTGTGTTGAGACCTGGGTGCTGCCCCCACACAAGATGGTCACTGATGGAAT...
Task1_train_32175
Located on Chromosome 1, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
CTCTCCAGCCCATCCTCTGGCCTTTGGACTTCAGGGCACAGTTCATATCTCCTGGCAGCTCTCCCGGGGCACCCTCCTGGGCCTAGATGAGTCCCAGGTCTGCTGCTATTTGGAGTTTGGGGAAATGATCTTCCCCTGGGCTCAGCTTTCTTATCTTTATAAGTGAGTGCAGGCAGAAGTACTGGTGTGGTTGTAGGGGTGGCCTCTGGAGTCTGGGATCCCTGAGCCTGGGGACCAGCTCCACCTCTGATCAGCTGCTTGGGCTCCCAGCCACCCCGGGAGCATGATGAGGCCAGCCAGTGAAGCAGGTGGAGCACTAG...
CTCTCCAGCCCATCCTCTGGCCTTTGGACTTCAGGGCACAGTTCATATCTCCTGGCAGCTCTCCCGGGGCACCCTCCTGGGCCTAGATGAGTCCCAGGTCTGCTGCTATTTGGAGTTTGGGGAAATGATCTTCCCCTGGGCTCAGCTTTCTTATCTTTATAAGTGAGTGCAGGCAGAAGTACTGGTGTGGTTGTAGGGGTGGCCTCTGGAGTCTGGGATCCCTGAGCCTGGGGACCAGCTCCACCTCTGATCAGCTGCTTGGGCTCCCAGCCACCCCGGGAGCATGATGAGGCCAGCCAGTGAAGCAGGTGGAGCACTAG...
Task1_train_32176
Assess the clinical impact of this variant found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
CTCCTGGCAGCTCTCCCGGGGCACCCTCCTGGGCCTAGATGAGTCCCAGGTCTGCTGCTATTTGGAGTTTGGGGAAATGATCTTCCCCTGGGCTCAGCTTTCTTATCTTTATAAGTGAGTGCAGGCAGAAGTACTGGTGTGGTTGTAGGGGTGGCCTCTGGAGTCTGGGATCCCTGAGCCTGGGGACCAGCTCCACCTCTGATCAGCTGCTTGGGCTCCCAGCCACCCCGGGAGCATGATGAGGCCAGCCAGTGAAGCAGGTGGAGCACTAGCTCGGTTAGCCAGACGTGGTGGCACGCACCTGTAATCCCAGCTGCTCG...
CTCCTGGCAGCTCTCCCGGGGCACCCTCCTGGGCCTAGATGAGTCCCAGGTCTGCTGCTATTTGGAGTTTGGGGAAATGATCTTCCCCTGGGCTCAGCTTTCTTATCTTTATAAGTGAGTGCAGGCAGAAGTACTGGTGTGGTTGTAGGGGTGGCCTCTGGAGTCTGGGATCCCTGAGCCTGGGGACCAGCTCCACCTCTGATCAGCTGCTTGGGCTCCCAGCCACCCCGGGAGCATGATGAGGCCAGCCAGTGAAGCAGGTGGAGCACTAGCTCGGTTAGCCAGACGTGGTGGCACGCACCTGTAATCCCAGCTGCTCG...
Task1_train_32177
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CCTGGGCCTAGATGAGTCCCAGGTCTGCTGCTATTTGGAGTTTGGGGAAATGATCTTCCCCTGGGCTCAGCTTTCTTATCTTTATAAGTGAGTGCAGGCAGAAGTACTGGTGTGGTTGTAGGGGTGGCCTCTGGAGTCTGGGATCCCTGAGCCTGGGGACCAGCTCCACCTCTGATCAGCTGCTTGGGCTCCCAGCCACCCCGGGAGCATGATGAGGCCAGCCAGTGAAGCAGGTGGAGCACTAGCTCGGTTAGCCAGACGTGGTGGCACGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCGGGAGAATCACTTGA...
CCTGGGCCTAGATGAGTCCCAGGTCTGCTGCTATTTGGAGTTTGGGGAAATGATCTTCCCCTGGGCTCAGCTTTCTTATCTTTATAAGTGAGTGCAGGCAGAAGTACTGGTGTGGTTGTAGGGGTGGCCTCTGGAGTCTGGGATCCCTGAGCCTGGGGACCAGCTCCACCTCTGATCAGCTGCTTGGGCTCCCAGCCACCCCGGGAGCATGATGAGGCCAGCCAGTGAAGCAGGTGGAGCACTAGCTCGGTTAGCCAGACGTGGTGGCACGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCGGGAGAATCACTTGA...
Task1_train_32178
With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
GGTGGGAGGGTGTTGGTCCTCCCCACGCAAGGAATAGCAAGGAGAGCACCCAGGGGGTGGGAAGCTCAGACGGTGGCCCAGATAGGAGGCCTGTGGCCTGGGAAAAAAGGGGCATGAAGGGAGATCCTAGCCTGGAAACACAGGGCCATGACCACTGACACCTTATTACCTATTTTGGGAGTGGTGGCAAACCCCACCCCTAACCTGTGGCCCCAACAAGCCCCGGGAGTCCAGCTCCTGGCCAGGTCAGTTCTTTGGTTTTAGAGGATATGATTAAGATGGGAGAAATCAGCTGGGAACAGTGGATCATACCTATAATC...
GGTGGGAGGGTGTTGGTCCTCCCCACGCAAGGAATAGCAAGGAGAGCACCCAGGGGGTGGGAAGCTCAGACGGTGGCCCAGATAGGAGGCCTGTGGCCTGGGAAAAAAGGGGCATGAAGGGAGATCCTAGCCTGGAAACACAGGGCCATGACCACTGACACCTTATTACCTATTTTGGGAGTGGTGGCAAACCCCACCCCTAACCTGTGGCCCCAACAAGCCCCGGGAGTCCAGCTCCTGGCCAGGTCAGTTCTTTGGTTTTAGAGGATATGATTAAGATGGGAGAAATCAGCTGGGAACAGTGGATCATACCTATAATC...
Task1_train_32179
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
ACAGAATGGCTCCTCCCACAGTTCAGTACAAATTTGCGAATGTTCAGTGTCCCCGTGGGGCAGTGAACTGTTGGCTACAGAATGGCTGACGTCTGTGCTTTTGCATCTGAGGGTGTAGATGGTTATTTTGTTTGTTTGTTTGTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCGGCTTACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGGCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACG...
ACAGAATGGCTCCTCCCACAGTTCAGTACAAATTTGCGAATGTTCAGTGTCCCCGTGGGGCAGTGAACTGTTGGCTACAGAATGGCTGACGTCTGTGCTTTTGCATCTGAGGGTGTAGATGGTTATTTTGTTTGTTTGTTTGTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCGGCTTACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGGCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACG...
Task1_train_32180
An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Benign
ACTCAAGTGATCCTCCCACCTCGACTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCAGGCCAAGTTTTTTTTTTTCTTATTGGAAAAGTGAAATATGCTTATTACAGAAACCTCAGAAAATATAAAGTAGAAAAATACCAAAATTTCTTTCATAATTCTCTCTACCCAAAGGCATCGGTCAGTCCCTCTCCAGACCAGAAGCAGTTAGTTCTGACACCAACAAGTGGTGATAAGAGGTTGATAGCCTAGCAAGGGGGAAGAAGCCACCACCAAACCAAACACAAAAAATGACACTGCACAGCAGTCTGGGG...
ACTCAAGTGATCCTCCCACCTCGACTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCAGGCCAAGTTTTTTTTTTTCTTATTGGAAAAGTGAAATATGCTTATTACAGAAACCTCAGAAAATATAAAGTAGAAAAATACCAAAATTTCTTTCATAATTCTCTCTACCCAAAGGCATCGGTCAGTCCCTCTCCAGACCAGAAGCAGTTAGTTCTGACACCAACAAGTGGTGATAAGAGGTTGATAGCCTAGCAAGGGGGAAGAAGCCACCACCAAACCAAACACAAAAAATGACACTGCACAGCAGTCTGGGG...
Task1_train_32181
A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GGAACTAGCCTTGGCTAGTTGCAGAATTCACACATATGGGGCTATGGCAACAGCAGATTCTGGAGTCTCAGGGTCTTTTCTTTCTAGATAAGTTACAGGGCAATTGCTTTTCAGAGTACTTTTACATTTCTATTCCATTCTTGTCAGTAAAGACAAGGATCCCATAAGCTGATGGAGAAACTGAGGCCTCTAGAAACTAAACGCTGGGAATGGCACCCAGGGTGCTGAATTCCAGGGTCTCCTCTTTTCTGCCACAGGCACACATGCCCCAGCAGCCCCTTTGGAGAGCCCCCTCTCTATAGGGTACTAGCCGGGGGCTC...
GGAACTAGCCTTGGCTAGTTGCAGAATTCACACATATGGGGCTATGGCAACAGCAGATTCTGGAGTCTCAGGGTCTTTTCTTTCTAGATAAGTTACAGGGCAATTGCTTTTCAGAGTACTTTTACATTTCTATTCCATTCTTGTCAGTAAAGACAAGGATCCCATAAGCTGATGGAGAAACTGAGGCCTCTAGAAACTAAACGCTGGGAATGGCACCCAGGGTGCTGAATTCCAGGGTCTCCTCTTTTCTGCCACAGGCACACATGCCCCAGCAGCCCCTTTGGAGAGCCCCCTCTCTATAGGGTACTAGCCGGGGGCTC...
Task1_train_32182
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TACAGGGCAATTGCTTTTCAGAGTACTTTTACATTTCTATTCCATTCTTGTCAGTAAAGACAAGGATCCCATAAGCTGATGGAGAAACTGAGGCCTCTAGAAACTAAACGCTGGGAATGGCACCCAGGGTGCTGAATTCCAGGGTCTCCTCTTTTCTGCCACAGGCACACATGCCCCAGCAGCCCCTTTGGAGAGCCCCCTCTCTATAGGGTACTAGCCGGGGGCTCAGACTCTGGAGTCAGACGGCTTCCGAGGGATGAGGCCTCAGACAAGTAACTCAGCTTTGAAATGTTTTCAGTGGGGAGAGAAATAGCCCCCTC...
TACAGGGCAATTGCTTTTCAGAGTACTTTTACATTTCTATTCCATTCTTGTCAGTAAAGACAAGGATCCCATAAGCTGATGGAGAAACTGAGGCCTCTAGAAACTAAACGCTGGGAATGGCACCCAGGGTGCTGAATTCCAGGGTCTCCTCTTTTCTGCCACAGGCACACATGCCCCAGCAGCCCCTTTGGAGAGCCCCCTCTCTATAGGGTACTAGCCGGGGGCTCAGACTCTGGAGTCAGACGGCTTCCGAGGGATGAGGCCTCAGACAAGTAACTCAGCTTTGAAATGTTTTCAGTGGGGAGAGAAATAGCCCCCTC...
Task1_train_32183
This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TCCAAGCCCATGGGGTTCAGGTGCTCCTCTCTGGCTATTCCTTCAGACCCGCAGCTGCTGGACACAGGCCACAGAGCTGGTGCCTCCCGCGCCATCACTGCAGTGCAGCCTGGGTGGACGGAGGAAGCCAAGGGGAACGGCCTGGGCTCAGAGTAAGGAGACCTTGCCCCGGGGGACAAACGGTGTCTGAAGTGCAGGGGTGAAGCGGTCTCCAGTCCTCAGGGGCCTGGAAATCAGCTCCTTGGGACACGGTCTTATGTGTATTGACCATTCTCCCCATCCATTCCCTCTTCGGAATGTTTCAGCTGTTCTGAGAAAAC...
TCCAAGCCCATGGGGTTCAGGTGCTCCTCTCTGGCTATTCCTTCAGACCCGCAGCTGCTGGACACAGGCCACAGAGCTGGTGCCTCCCGCGCCATCACTGCAGTGCAGCCTGGGTGGACGGAGGAAGCCAAGGGGAACGGCCTGGGCTCAGAGTAAGGAGACCTTGCCCCGGGGGACAAACGGTGTCTGAAGTGCAGGGGTGAAGCGGTCTCCAGTCCTCAGGGGCCTGGAAATCAGCTCCTTGGGACACGGTCTTATGTGTATTGACCATTCTCCCCATCCATTCCCTCTTCGGAATGTTTCAGCTGTTCTGAGAAAAC...
Task1_train_32184
Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGT...
TAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGT...
Task1_train_32185
A variant was discovered on Chromosome 1. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
AGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCA...
AGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCA...
Task1_train_32186
A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TCCTTAAGCTCCATCAGTACTGCTGTGTTCGTTTGCCCATGCGCAGTAGCCTGTGGCCTCCCCACCCACAGAAATCCAGCATCCTCACCCGGGCTGGCGAGCAGCGCAAACGGAGCCAGTCCATGAAGTCCTACCCATCCAGCGAGCTACGGAACATGTGTGATGAGCACATCGCCTCTGAGGAGCCAGCCGAGAAGGAGGACCTCCTGCAGCAGATGCTGGAAAGGAGGTGAGAGCCTGGCGGGGCCCCCACTGCCCGCAGGGCTACACAGCGGTGGGGTGAGCCTTTGGCTCAGATGTTGTGAGGTGGCTCCTGAGTT...
TCCTTAAGCTCCATCAGTACTGCTGTGTTCGTTTGCCCATGCGCAGTAGCCTGTGGCCTCCCCACCCACAGAAATCCAGCATCCTCACCCGGGCTGGCGAGCAGCGCAAACGGAGCCAGTCCATGAAGTCCTACCCATCCAGCGAGCTACGGAACATGTGTGATGAGCACATCGCCTCTGAGGAGCCAGCCGAGAAGGAGGACCTCCTGCAGCAGATGCTGGAAAGGAGGTGAGAGCCTGGCGGGGCCCCCACTGCCCGCAGGGCTACACAGCGGTGGGGTGAGCCTTTGGCTCAGATGTTGTGAGGTGGCTCCTGAGTT...
Task1_train_32187
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
CTAGGAGTGGAATTTGAGGCCTCCCCAACCACCTACCAAAAAAGGAGGGTGAAATGAAAGGAAGAAGAAAAACTCAGCATTCTTTCCTCTGACAAAGAGTAAAACGACAAGGAATATCGGCCTGAATTCTCTTCCCAAGAAGAAAGAAAGCACACCAACGCAGGCATTTGTCTTCTGTCCATGGTGCTGAAGTTTATTCACTTTCAAACCACTTTCAGTAACAGGTGAGGTTCTACCTTAAAATTTAATGCATGGGGTGGGAGAGGCGAGGAAGTCACCATCAAACCACTTTATCTACAGTTAGCATAAGATGTGAGAAG...
CTAGGAGTGGAATTTGAGGCCTCCCCAACCACCTACCAAAAAAGGAGGGTGAAATGAAAGGAAGAAGAAAAACTCAGCATTCTTTCCTCTGACAAAGAGTAAAACGACAAGGAATATCGGCCTGAATTCTCTTCCCAAGAAGAAAGAAAGCACACCAACGCAGGCATTTGTCTTCTGTCCATGGTGCTGAAGTTTATTCACTTTCAAACCACTTTCAGTAACAGGTGAGGTTCTACCTTAAAATTTAATGCATGGGGTGGGAGAGGCGAGGAAGTCACCATCAAACCACTTTATCTACAGTTAGCATAAGATGTGAGAAG...
Task1_train_32188
Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Benign
CCTGGGCCCTTCTGGAGCTGAGTGTTCACTGGCTCCACTCTGGCATGGCCCAGCTTGAGCCTAAGTCAAGGAGAGATCGGTCAGTACCCCATGAAGGTAGTTTGGCTCATTTGCCCAACTGTGGGAGGAACCGAAGGTGCACTCAAGAGCGAGGGCAGAGAAGCCACCAAGCAGCAGGGAAAAGCAGCCGCCTGCCAAACAGACGGCAAAACCCACACGATGCACATTTGGCACCTGTCCTAGTGCAGCTAGTTCAGAGGCGGCTCACAAGGAAGGCCTCTGTGCAGTCCTTTTTGATCTGACTTTTGATTTTTCTTCGA...
CCTGGGCCCTTCTGGAGCTGAGTGTTCACTGGCTCCACTCTGGCATGGCCCAGCTTGAGCCTAAGTCAAGGAGAGATCGGTCAGTACCCCATGAAGGTAGTTTGGCTCATTTGCCCAACTGTGGGAGGAACCGAAGGTGCACTCAAGAGCGAGGGCAGAGAAGCCACCAAGCAGCAGGGAAAAGCAGCCGCCTGCCAAACAGACGGCAAAACCCACACGATGCACATTTGGCACCTGTCCTAGTGCAGCTAGTTCAGAGGCGGCTCACAAGGAAGGCCTCTGTGCAGTCCTTTTTGATCTGACTTTTGATTTTTCTTCGA...
Task1_train_32189
Assess the clinical impact of this variant found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
TCTGTAATGGGTTGACATGAAGACACTTCCTGCCAGAATTTGACAGGTCACTGGGAACAAAGACCTCCTCCCTGTCACCTCCCTCATCCTCCATTCCCATTCACCATACCCTCCTCTGTCTGCAGACAACCTTTTAGTCCTCACGGTGGCCACTAAGGAGACCGAGGGATTCCGTCGCTTCAAGCGCTCAGCTCAGTTCTTCAACTACAAGATCCAGGTAAGGGGTTTCCTGGGTGAGGCAGAGACAGTGAGGGGTGGCAGGAGGATCTAGGAGCTAGTGTCCTTTCCAAACTACCACGTCTCTTAAGATAGACTTGGGG...
TCTGTAATGGGTTGACATGAAGACACTTCCTGCCAGAATTTGACAGGTCACTGGGAACAAAGACCTCCTCCCTGTCACCTCCCTCATCCTCCATTCCCATTCACCATACCCTCCTCTGTCTGCAGACAACCTTTTAGTCCTCACGGTGGCCACTAAGGAGACCGAGGGATTCCGTCGCTTCAAGCGCTCAGCTCAGTTCTTCAACTACAAGATCCAGGTAAGGGGTTTCCTGGGTGAGGCAGAGACAGTGAGGGGTGGCAGGAGGATCTAGGAGCTAGTGTCCTTTCCAAACTACCACGTCTCTTAAGATAGACTTGGGG...
Task1_train_32190
A variant affecting Chromosome 1 has been observed. Determine if it's benign or associated with disease.
Benign
TTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGT...
TTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGT...
Task1_train_32191
A variant on Chromosome 1 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
AGCTTTGGTTTCTTCATATGTAAAAAGAAAGTGAAGGAGGAAGGGAGGGCAGGAAAGGAGGAAGAATCCCTTTTGAAGCCTGATTTGTGTTGGACTCACCAGTTATAAAGCAAGCTTGTCCAAACCACTGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAAAAAAAGGAAGCATGCCCTTGCCCCAGCCATTTTGGTAATAATAGACGTTTATTGAATGCTTACTGTATACCACTGTAAGCACTGTATTAAGTAAGCACTGTACTGAGTGCTTTGTTTTTTGTATTTTGTGTGTGTGTGTGACAGTCTTGCTCTGTCAC...
AGCTTTGGTTTCTTCATATGTAAAAAGAAAGTGAAGGAGGAAGGGAGGGCAGGAAAGGAGGAAGAATCCCTTTTGAAGCCTGATTTGTGTTGGACTCACCAGTTATAAAGCAAGCTTGTCCAAACCACTGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAAAAAAAGGAAGCATGCCCTTGCCCCAGCCATTTTGGTAATAATAGACGTTTATTGAATGCTTACTGTATACCACTGTAAGCACTGTATTAAGTAAGCACTGTACTGAGTGCTTTGTTTTTTGTATTTTGTGTGTGTGTGTGACAGTCTTGCTCTGTCAC...
Task1_train_32192
This is a variant located on Chromosome 1. Is this mutation a likely cause of disease or not?
Benign
CTGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAAAAAAAGGAAGCATGCCCTTGCCCCAGCCATTTTGGTAATAATAGACGTTTATTGAATGCTTACTGTATACCACTGTAAGCACTGTATTAAGTAAGCACTGTACTGAGTGCTTTGTTTTTTGTATTTTGTGTGTGTGTGTGACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTCCACTCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCAGCCTCCTGAGTAGCTGGGATTACTGGCGCCCACCACCACACCCGGCT...
CTGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAAAAAAAGGAAGCATGCCCTTGCCCCAGCCATTTTGGTAATAATAGACGTTTATTGAATGCTTACTGTATACCACTGTAAGCACTGTATTAAGTAAGCACTGTACTGAGTGCTTTGTTTTTTGTATTTTGTGTGTGTGTGTGACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTCCACTCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCAGCCTCCTGAGTAGCTGGGATTACTGGCGCCCACCACCACACCCGGCT...
Task1_train_32193
This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
TTACAGGCGCGTGCCACCACGCCCGGCTAATTTTTGCATTTTTAGTAGCGACGAGGTCTCTCGCCACGTTGGCTAGGCTCATCTCAAACTCCTGACCTCAGGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTTGGCCTGTTTTTTGTTTTTTTTACAGTGATGCAACCATGGCTCACTGCAGCCTGGGTCTCCTGGGCTAAAGCTATCCTCCTGAGTAGCTGGGGCCACAGACAAGTGCCACCATGGCCAGCTAATTAAATTTTTTTTTGGCCAGGCACTGTAGCTCATGCCTGTAA...
TTACAGGCGCGTGCCACCACGCCCGGCTAATTTTTGCATTTTTAGTAGCGACGAGGTCTCTCGCCACGTTGGCTAGGCTCATCTCAAACTCCTGACCTCAGGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTTGGCCTGTTTTTTGTTTTTTTTACAGTGATGCAACCATGGCTCACTGCAGCCTGGGTCTCCTGGGCTAAAGCTATCCTCCTGAGTAGCTGGGGCCACAGACAAGTGCCACCATGGCCAGCTAATTAAATTTTTTTTTGGCCAGGCACTGTAGCTCATGCCTGTAA...
Task1_train_32194
With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ACCCCAGGTTTCTGGCTTCTTGAGTTGGTGCTGTGGCTCTGGCACTTGCTAGTGACTATTCTTTTCTTTTTGAAACAGTCTCACTCTGTTGCTCAGGCTGGAGGGCAGTGGCACCCATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGCTTGCCACCACGCCTGGCTAAATTTTTTTTTAATTTTTAGTAGAGACGGGGTTTTGCCATGTTGTCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAG...
ACCCCAGGTTTCTGGCTTCTTGAGTTGGTGCTGTGGCTCTGGCACTTGCTAGTGACTATTCTTTTCTTTTTGAAACAGTCTCACTCTGTTGCTCAGGCTGGAGGGCAGTGGCACCCATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGCTTGCCACCACGCCTGGCTAAATTTTTTTTTAATTTTTAGTAGAGACGGGGTTTTGCCATGTTGTCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAG...
Task1_train_32195
Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
AACTGGAAGAAAATTTTCGAGGTATGCTGAAAAGCGCAGCCACCAAAGTCACCACAGTACTAGCTACCAAGACTGCCGAGTATAGCGAGATGGTATCGCTCTTTGAAACTCCAAGGAAGACTCGGGAACCCTTTATCTTAGAGGAAAATGAAATATATGGGTTTGACCTAGCTTCGTCTCATTTGGACACTGTAAAGCTAATCTTGAACATAAACATTGAATCACCAGTTGTTTCTATCCCTCGGAAGCCGGGGAGTCCTGAGTTGTTGGTGGGACACTTGGGACAGATATTCATCCAGAATTTTGTGGCGGGAGATGAT...
AACTGGAAGAAAATTTTCGAGGTATGCTGAAAAGCGCAGCCACCAAAGTCACCACAGTACTAGCTACCAAGACTGCCGAGTATAGCGAGATGGTATCGCTCTTTGAAACTCCAAGGAAGACTCGGGAACCCTTTATCTTAGAGGAAAATGAAATATATGGGTTTGACCTAGCTTCGTCTCATTTGGACACTGTAAAGCTAATCTTGAACATAAACATTGAATCACCAGTTGTTTCTATCCCTCGGAAGCCGGGGAGTCCTGAGTTGTTGGTGGGACACTTGGGACAGATATTCATCCAGAATTTTGTGGCGGGAGATGAT...
Task1_train_32196
Consider a variant on Chromosome 1. Determine its clinical classification and disease relevance.
Benign
GGCTCTAGGGCCAATGACAGGTGAGAGAGGTAAAGTTCCACAGGTCTGCCTTTAGGGAGCTTGTAGGGTCCAGGCAGTGGGCAGCGGGGAAGTGGTCTATAAAGAAGCTAACCCACAATAGAACAAGCTACAGATAAACAGCTTCCCAAAGCGGAGAATGCAAGGAGGACAGCAAAACCCGTCAGGGGAGCCGAGCAGGGCTTCTCTCCTGGGGCATCTTGAGCCCCCGGGGCCACAGAACACAAGGGGGTCATGGATTTGGATCACAGAACATAAGGGGGTCATGGATTTGGGTCACAGAACACAAGGGGGTCATGGAT...
GGCTCTAGGGCCAATGACAGGTGAGAGAGGTAAAGTTCCACAGGTCTGCCTTTAGGGAGCTTGTAGGGTCCAGGCAGTGGGCAGCGGGGAAGTGGTCTATAAAGAAGCTAACCCACAATAGAACAAGCTACAGATAAACAGCTTCCCAAAGCGGAGAATGCAAGGAGGACAGCAAAACCCGTCAGGGGAGCCGAGCAGGGCTTCTCTCCTGGGGCATCTTGAGCCCCCGGGGCCACAGAACACAAGGGGGTCATGGATTTGGATCACAGAACATAAGGGGGTCATGGATTTGGGTCACAGAACACAAGGGGGTCATGGAT...
Task1_train_32197
A genomic change on Chromosome 1 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
TGCATTTTTTTGTTTTTGAGATGGGATCTCACCCTGTCACCTAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTTGTGCCTCAGTCTCCTGAGTAGCTGGGACCACAGACACACACCACCACGCCTGGCTAATTTTTTGTATTTTTGGTAGAGGCAGGGTTTCACCTTGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCGATTCATCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGTGCTTGGCTGACTTTATAATTTTTTTTTT...
TGCATTTTTTTGTTTTTGAGATGGGATCTCACCCTGTCACCTAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTTGTGCCTCAGTCTCCTGAGTAGCTGGGACCACAGACACACACCACCACGCCTGGCTAATTTTTTGTATTTTTGGTAGAGGCAGGGTTTCACCTTGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCGATTCATCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGTGCTTGGCTGACTTTATAATTTTTTTTTT...
Task1_train_32198
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGTGCTTGGCTGACTTTATAATTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAAGAGCGCGATCTCGGCTCACCACAACTTCTGCCTCCTGGGTTCAAGGGATTCTTCTGCCTCAGCCTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGTTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGG...
CTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGTGCTTGGCTGACTTTATAATTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAAGAGCGCGATCTCGGCTCACCACAACTTCTGCCTCCTGGGTTCAAGGGATTCTTCTGCCTCAGCCTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGTTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGG...
Task1_train_32199
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
TGTCAGGCTGGCTTTCACCATCTTGTCCTTGCCCTTAGGAACAGGCTTGGATTCATGAGACTTGAGACAAATCAGGCTGCAATTTCAGATCACAAGTGAGGTGGTGCTGACTCTTCCCATTCAGCAGGATGTCCTGGCTTTAATTTTAATGTGCCACCATAGCTCATTCTAGGAATGAATTGACTTGGCATGGGACCGGCCATACAGAGAACTAACTGCAGCCAGCTGGGATGTGTTTGAATGTGGGATGCCTCAGAGTGGGATAAACAAGTGTGTTTCTGAAGACCCTTTGCCAGCCCACGGATGCCCGCTCTCTCCAT...
TGTCAGGCTGGCTTTCACCATCTTGTCCTTGCCCTTAGGAACAGGCTTGGATTCATGAGACTTGAGACAAATCAGGCTGCAATTTCAGATCACAAGTGAGGTGGTGCTGACTCTTCCCATTCAGCAGGATGTCCTGGCTTTAATTTTAATGTGCCACCATAGCTCATTCTAGGAATGAATTGACTTGGCATGGGACCGGCCATACAGAGAACTAACTGCAGCCAGCTGGGATGTGTTTGAATGTGGGATGCCTCAGAGTGGGATAAACAAGTGTGTTTCTGAAGACCCTTTGCCAGCCCACGGATGCCCGCTCTCTCCAT...