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_33700
With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ATAAATAGCACTGATGATAGGGAAAGACTTCTGTAATTAACTGAAATGTGTTGTCATTCTTACCTACAGAAGCCAGGTTCCTGCAGGTTTCCTGCATCACTTCTCTGTAGAGATTCTTCTGAGAAGAATCTAGCAAAGCCCATTCCTCCTGGGTAAAGTTCACAGCCACATCCTCAAAAGCCACCGAGTCCTAGAACATTCCACACATGTGGATAGAAGGATGGGTGAGACTGACAGCACTGGGAATCTATACTCAATTCATAAGCTGTTTACATGATTTGATAATTTCCAAGCATTTATTCTATGACTTGATTGTCACA...
ATAAATAGCACTGATGATAGGGAAAGACTTCTGTAATTAACTGAAATGTGTTGTCATTCTTACCTACAGAAGCCAGGTTCCTGCAGGTTTCCTGCATCACTTCTCTGTAGAGATTCTTCTGAGAAGAATCTAGCAAAGCCCATTCCTCCTGGGTAAAGTTCACAGCCACATCCTCAAAAGCCACCGAGTCCTAGAACATTCCACACATGTGGATAGAAGGATGGGTGAGACTGACAGCACTGGGAATCTATACTCAATTCATAAGCTGTTTACATGATTTGATAATTTCCAAGCATTTATTCTATGACTTGATTGTCACA...
Task1_train_33701
This sequence change occurs on Chromosome 1. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CATTTTACTGGTTAGGGCCCGAGAAGGAGTTTGGATACCTGTTTTCCTCAATAGACCTTGGGAGGCCTGTCCCTCCATACATATTATCACTGAAGTACTAAAAGGAATACTTAATAGATCAAAGAGATTCCTATTTACTTTAATAGCTGTGGTCCTGGGCCTTGCTGGTGTTGCTTTGCACTCTTCTATTCAAACTGCGGACTTTGTGGGTAGTTGGCAGAAAAATTATTCTAAGCTTTGGAATTCCCAAAGCCAAATAGATCAAAAATTGGCAAATCAAATTAATGATCTCCGTCAAACAGTAATTTGGATGGGAGATC...
CATTTTACTGGTTAGGGCCCGAGAAGGAGTTTGGATACCTGTTTTCCTCAATAGACCTTGGGAGGCCTGTCCCTCCATACATATTATCACTGAAGTACTAAAAGGAATACTTAATAGATCAAAGAGATTCCTATTTACTTTAATAGCTGTGGTCCTGGGCCTTGCTGGTGTTGCTTTGCACTCTTCTATTCAAACTGCGGACTTTGTGGGTAGTTGGCAGAAAAATTATTCTAAGCTTTGGAATTCCCAAAGCCAAATAGATCAAAAATTGGCAAATCAAATTAATGATCTCCGTCAAACAGTAATTTGGATGGGAGATC...
Task1_train_33702
Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GCAAGGATGGTCTCGATCTCCTGACTTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCCAGCCCCTAATAACTGCACCCAGCCCCTAATAACCTTTTTTAATCTTAGTGAAGTTGTATGTTTCATACACAAATTTTGTCACATGGCCTATGATAACAGAGTTATAAATTAAGTATATGCAAAGTTATGCATTGTGTAGAAATAAAATAATAATGCAATATTCATTTATAGTGATTTTGACTCCTCAAAATATTTATTATATATAATATTGATTTTGTAACTATAACATTAATATTCTAT...
GCAAGGATGGTCTCGATCTCCTGACTTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCCAGCCCCTAATAACTGCACCCAGCCCCTAATAACCTTTTTTAATCTTAGTGAAGTTGTATGTTTCATACACAAATTTTGTCACATGGCCTATGATAACAGAGTTATAAATTAAGTATATGCAAAGTTATGCATTGTGTAGAAATAAAATAATAATGCAATATTCATTTATAGTGATTTTGACTCCTCAAAATATTTATTATATATAATATTGATTTTGTAACTATAACATTAATATTCTAT...
Task1_train_33703
A change on Chromosome 1 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GGTCGCTGTGGGGCTCTACCGGCAGCTGCTCCTGCTCCTGGTCCAGAGGGCTGTCCCCATCATCAATCACCACAGGGTCTTCACAGTGCTTGAGCTGCAATCCCAGAGACAGCTTTTCAGGGCTAGGGGAAGAGGTCCCATCTCTCCCTGGGCCTGGTGACCATCCACTCCACAGCTGACCATCAAAGGCTCAACTTAGGCCTTGGACTGGGCTGTAAAGGGGCACGACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGA...
GGTCGCTGTGGGGCTCTACCGGCAGCTGCTCCTGCTCCTGGTCCAGAGGGCTGTCCCCATCATCAATCACCACAGGGTCTTCACAGTGCTTGAGCTGCAATCCCAGAGACAGCTTTTCAGGGCTAGGGGAAGAGGTCCCATCTCTCCCTGGGCCTGGTGACCATCCACTCCACAGCTGACCATCAAAGGCTCAACTTAGGCCTTGGACTGGGCTGTAAAGGGGCACGACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGA...
Task1_train_33704
Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
ACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGATGGAACTCCTCATTCCCCAGCCAGCACATGCATGGCCCAGCCAAAGTGTCTAAGTACCAGATCTCTACCCGTCCCAGCCCCACCTCTTCTACTCACCCACTGCCAGGGTCTCCCGGGCTCCCGTTCCAGTGCCTCCACCGCGGCCACAGCCTGCTCTCCGCTCTCAGGCTCCTGCGCCCGCACCCAGCTCTGGATCTCCCGGGGCAGGATGGCCAGGAACTGCTCCA...
ACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGATGGAACTCCTCATTCCCCAGCCAGCACATGCATGGCCCAGCCAAAGTGTCTAAGTACCAGATCTCTACCCGTCCCAGCCCCACCTCTTCTACTCACCCACTGCCAGGGTCTCCCGGGCTCCCGTTCCAGTGCCTCCACCGCGGCCACAGCCTGCTCTCCGCTCTCAGGCTCCTGCGCCCGCACCCAGCTCTGGATCTCCCGGGGCAGGATGGCCAGGAACTGCTCCA...
Task1_train_33705
This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CGGAGCCGAAGTCACTGTTCTTGTTATTAAGACCTTTACAAATGGAGCTGGAATGACAAAGACATGCATCGGATGAGCCTTCAAGCACATCCAGGAATGGAAAATCCACCCTTCTGGTGGCAGAGGGCTGATGGTGCTGCGTGCTGGATGGACAACCCAGCCAGAATCAGCTTTGCCCAGCAGAGTCTGCAATGGGAGGCAAGGGAAAACATCACATGAGACAGCTACATGCAGTCTACCAGGGACAAATAACACTGCATCTAGAAGTATCAGTGGTTTCCTATGAGCCTTCTGCCAATTCTGCCCTGACCTTCAACCTC...
CGGAGCCGAAGTCACTGTTCTTGTTATTAAGACCTTTACAAATGGAGCTGGAATGACAAAGACATGCATCGGATGAGCCTTCAAGCACATCCAGGAATGGAAAATCCACCCTTCTGGTGGCAGAGGGCTGATGGTGCTGCGTGCTGGATGGACAACCCAGCCAGAATCAGCTTTGCCCAGCAGAGTCTGCAATGGGAGGCAAGGGAAAACATCACATGAGACAGCTACATGCAGTCTACCAGGGACAAATAACACTGCATCTAGAAGTATCAGTGGTTTCCTATGAGCCTTCTGCCAATTCTGCCCTGACCTTCAACCTC...
Task1_train_33706
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GGTTGAAAATTCAGGAATATGTAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCAT...
GGTTGAAAATTCAGGAATATGTAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCAT...
Task1_train_33707
Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Benign
TAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAG...
TAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAG...
Task1_train_33708
This genomic variant is located on Chromosome 1. Can you determine its pathogenicity and name any linked disease?
Benign
TAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTG...
TAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTG...
Task1_train_33709
Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Benign
AGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACA...
AGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACA...
Task1_train_33710
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
GTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAA...
GTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAA...
Task1_train_33711
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
AGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAAAAAAAACCCTGAAGACTATTTTTATAAGGGAAACAGTATGAGATTTACATTCTGTTGCAAACTCTGTCTTGTTAGCACTTCTGAGCAGCACCAACTGGAGACTGGGTTTCTGCATCTTGGTGAACTATTACCGACTGCCTTCCTGCTACAAACACTTTGATAACCTATATAAATAATGTAATCAGAAACACATAGCTGAGCTT...
AGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAAAAAAAACCCTGAAGACTATTTTTATAAGGGAAACAGTATGAGATTTACATTCTGTTGCAAACTCTGTCTTGTTAGCACTTCTGAGCAGCACCAACTGGAGACTGGGTTTCTGCATCTTGGTGAACTATTACCGACTGCCTTCCTGCTACAAACACTTTGATAACCTATATAAATAATGTAATCAGAAACACATAGCTGAGCTT...
Task1_train_33712
A genomic variant on Chromosome 1 is under review. What is the biological outcome — benign or pathogenic?
Benign
GTTGCTTCACTTCACTGAAAGTTTGGGTTTGGTGTGATGGTTCATTTTACATATCAACTTGGTTGGACTATGGTGCCCAGTTTTTGTTCAAACACAAGCCTCGGTGTTACTGTGAAGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGATGCGATTAACATTTAAATCAGTAGACTTTTAGTAAAGCAGATTACCCTTTATAATGTGAGTGGGTCTCATCCCATCAGTTGAAAGCCTTAAGAGAAAAGACTGACCTGCTTCCAAAAAGAGGGAATTTTGCCTCCAGACTTTGAACTCAAGCTGCAACATCAACCTCTGTC...
GTTGCTTCACTTCACTGAAAGTTTGGGTTTGGTGTGATGGTTCATTTTACATATCAACTTGGTTGGACTATGGTGCCCAGTTTTTGTTCAAACACAAGCCTCGGTGTTACTGTGAAGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGATGCGATTAACATTTAAATCAGTAGACTTTTAGTAAAGCAGATTACCCTTTATAATGTGAGTGGGTCTCATCCCATCAGTTGAAAGCCTTAAGAGAAAAGACTGACCTGCTTCCAAAAAGAGGGAATTTTGCCTCCAGACTTTGAACTCAAGCTGCAACATCAACCTCTGTC...
Task1_train_33713
This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTGAATTGGAAGATCCTAGTACGAAAGGAAAGACTACTTTAATGACTACTTTCATATTATATACATATATATAATAAAATCAAAAACAGGAACTGCCACATGGTTTTGGTCTTCCCATGCCTTTGAATCATCAGGCAGAGAATGAGGTTACTCTATTGATAGAGGTGAACTCTAGTGATAGGTTACTCTATTGATAGAAGTTCTTTAACATCTGGAAAGACTAGCTGTTGTAAATTAGGACTCGTTTGTCCTTTAGATACACTGTATACATAGATAAGTAAAAC...
TTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTGAATTGGAAGATCCTAGTACGAAAGGAAAGACTACTTTAATGACTACTTTCATATTATATACATATATATAATAAAATCAAAAACAGGAACTGCCACATGGTTTTGGTCTTCCCATGCCTTTGAATCATCAGGCAGAGAATGAGGTTACTCTATTGATAGAGGTGAACTCTAGTGATAGGTTACTCTATTGATAGAAGTTCTTTAACATCTGGAAAGACTAGCTGTTGTAAATTAGGACTCGTTTGTCCTTTAGATACACTGTATACATAGATAAGTAAAAC...
Task1_train_33714
A variant on Chromosome 1 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
AGTACATCCATATGTTCATTGTAGATTCAATCTTTAATCAATAAAATTGTCCTGTTTTGTCAGTTTTGTTGTTATCTCAAAATTAAATTATATTGAATTTTTCTAATTTAATTTTTAAAAATGTTTTCTTTTCTTTCTTTAATTGACTGTATTGTTTGTTTCAAACAGGCTGTATAAATTTGAGTTTAGTTTTTTTTTACCCTAGCCTATGACATGCCTTTTTCTATTAATTGGAGCACTCATCCCTTAAGTGATTGATGTATTTATTTCACTCATATTTATAATCATCTATGAGCAATCATTGTGTGCCTATACTGACA...
AGTACATCCATATGTTCATTGTAGATTCAATCTTTAATCAATAAAATTGTCCTGTTTTGTCAGTTTTGTTGTTATCTCAAAATTAAATTATATTGAATTTTTCTAATTTAATTTTTAAAAATGTTTTCTTTTCTTTCTTTAATTGACTGTATTGTTTGTTTCAAACAGGCTGTATAAATTTGAGTTTAGTTTTTTTTTACCCTAGCCTATGACATGCCTTTTTCTATTAATTGGAGCACTCATCCCTTAAGTGATTGATGTATTTATTTCACTCATATTTATAATCATCTATGAGCAATCATTGTGTGCCTATACTGACA...
Task1_train_33715
This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant?
Benign
CTATGAGCAATCATTGTGTGCCTATACTGACATGATTTGTCTTAATTCTTTAACTTTATTTTCATTATTTTACTATTTATTCCTTTATTTGTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAAC...
CTATGAGCAATCATTGTGTGCCTATACTGACATGATTTGTCTTAATTCTTTAACTTTATTTTCATTATTTTACTATTTATTCCTTTATTTGTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAAC...
Task1_train_33716
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
GTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTT...
GTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTT...
Task1_train_33717
Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Benign
GCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTTGCCCTTTTCTTCATAAACTATTTTCTTTTAGCCTTTTAGGGATCCAGTATTT...
GCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTTGCCCTTTTCTTCATAAACTATTTTCTTTTAGCCTTTTAGGGATCCAGTATTT...
Task1_train_33718
Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TTATCCTCTCATCGGTTTATGGGCACTTAGGTTGGTTACAGATCCTTGCAATTGTGAATTGAGCTGCGATAAACATACACATGTGCATGTCTTTTTGATATAATGACTTCTTTTCCTTTGGGTAGATACCCAGTAGTGGGATTGCTGGATTGAATTTTAGATCTACTTTTGTTTTTTTGAAAAATCTCCATACTGTTTTCTATAGAGGTTATACTAATTTACATTCCCACCAGCAGTGGATAAGCATTCCCTTTTTACCACATCCACGCCAACATCTATTGTTTTTTGACTTTATAATAGTGGCCATTCTGGCTGGGGTA...
TTATCCTCTCATCGGTTTATGGGCACTTAGGTTGGTTACAGATCCTTGCAATTGTGAATTGAGCTGCGATAAACATACACATGTGCATGTCTTTTTGATATAATGACTTCTTTTCCTTTGGGTAGATACCCAGTAGTGGGATTGCTGGATTGAATTTTAGATCTACTTTTGTTTTTTTGAAAAATCTCCATACTGTTTTCTATAGAGGTTATACTAATTTACATTCCCACCAGCAGTGGATAAGCATTCCCTTTTTACCACATCCACGCCAACATCTATTGTTTTTTGACTTTATAATAGTGGCCATTCTGGCTGGGGTA...
Task1_train_33719
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TTGAAAGTTAAGGAATTTTATTTATTTTTATTTTTATTTTTTGAGATGGAATCTCACTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCGTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGTACACCACCACACTTGGCTAATTTTTGTATTTTATTACAGATGGGGTTTCACCAAGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACGTGACTCAGCCTGTCAAAGTGCTGGGATTAAAGGGGTGAGCCACAGC...
TTGAAAGTTAAGGAATTTTATTTATTTTTATTTTTATTTTTTGAGATGGAATCTCACTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCGTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGTACACCACCACACTTGGCTAATTTTTGTATTTTATTACAGATGGGGTTTCACCAAGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACGTGACTCAGCCTGTCAAAGTGCTGGGATTAAAGGGGTGAGCCACAGC...
Task1_train_33720
Given this variant on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
CAACCAGCTATTTAGGCGATCAATGTCAGAAAACTAGAACAAATAGAAACACATTTTCCAGTAGAGAGACATTCAGTTGACTCCATTTTGGTTTTCTTTCTCGGTTTAACTTTTGATTTACCCAAGAAAGACCAGGAAATCAGTGATTGCCTAGAGTGAAAACTGCCAGAAGAAGAGATTATATACAAAGAAGGATAAGGAATATTTTGGATATGATGAAAATAGTCTGCCCTGGTTGTGGTGGTGGTTTCATAGGCATATACAACTGCGAAAACTCCTAGAATTGCATACTTTAAATTGATACAGTTTACCCTACATAA...
CAACCAGCTATTTAGGCGATCAATGTCAGAAAACTAGAACAAATAGAAACACATTTTCCAGTAGAGAGACATTCAGTTGACTCCATTTTGGTTTTCTTTCTCGGTTTAACTTTTGATTTACCCAAGAAAGACCAGGAAATCAGTGATTGCCTAGAGTGAAAACTGCCAGAAGAAGAGATTATATACAAAGAAGGATAAGGAATATTTTGGATATGATGAAAATAGTCTGCCCTGGTTGTGGTGGTGGTTTCATAGGCATATACAACTGCGAAAACTCCTAGAATTGCATACTTTAAATTGATACAGTTTACCCTACATAA...
Task1_train_33721
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
ATCTGTACATATAGGTATATATATGTGTGAGTGCACATTTGTATGTAAGACCATTATGAAGCTATCTCTAGATTATATTGTTAAGTAAAAAAAAAGTATAATGCAGAAAGGGATTTTTAATATTTGCTTATATTACAGTTATGTTACATATAACATATAATGAAACATTGCATATATACATATATATAACAGTTTATGATATATATAACATATATGTATAACAGTTTATATCCAAGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAA...
ATCTGTACATATAGGTATATATATGTGTGAGTGCACATTTGTATGTAAGACCATTATGAAGCTATCTCTAGATTATATTGTTAAGTAAAAAAAAAGTATAATGCAGAAAGGGATTTTTAATATTTGCTTATATTACAGTTATGTTACATATAACATATAATGAAACATTGCATATATACATATATATAACAGTTTATGATATATATAACATATATGTATAACAGTTTATATCCAAGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAA...
Task1_train_33722
This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
AGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATAT...
AGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATAT...
Task1_train_33723
A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
ATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATT...
ATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATT...
Task1_train_33724
Here is a genetic alteration on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Benign
TTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATTTCTTCCAACTTGTTATAAGATGTGTTGTATATTGTATATTTTTATTATGTAGCCTCAGTTTTGGCATTCTCACTCTCTCAACCTAACTTTATTTCATGATTTAGTTTGTGACTTCAAATCTGCATTTATGATACATTTGCTAGTAGATACTCATAGCAACTGCCATAGTATAGACACCCATTTCTCATCCCATCTATGTTACATCCAAATTTTTTCAGGGGTGCCAAGTGCCTAATTTTAGAATATACTCTTCCAAT...
TTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATTTCTTCCAACTTGTTATAAGATGTGTTGTATATTGTATATTTTTATTATGTAGCCTCAGTTTTGGCATTCTCACTCTCTCAACCTAACTTTATTTCATGATTTAGTTTGTGACTTCAAATCTGCATTTATGATACATTTGCTAGTAGATACTCATAGCAACTGCCATAGTATAGACACCCATTTCTCATCCCATCTATGTTACATCCAAATTTTTTCAGGGGTGCCAAGTGCCTAATTTTAGAATATACTCTTCCAAT...
Task1_train_33725
A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TTCAATGGCAGGAAGCATCCAGCACAGGAGAAAGATGTAGGCTGGGAGCCTAGGCCAATCTCTCCTTTTCACGTTTTTCTGCCTGCTTTATATTCCCTGGCAGCTGATTAGATTGTGCCCACCAGATTAAGGTTGGGTCTGCCTTTCCCAGTCCACTGACTCAAATGTTGATCTCTTTTGGCAATACCCTCACAGACACACCCAGGATCAATACTTTGTATCCTTCAATCCAATCAAGTTGACGCTCAGTATTAACCATCATAGGTACCTTAAGAGGTAGACTTTCGACATAGATACAACTTCTGAAAGTTAATATGCAT...
TTCAATGGCAGGAAGCATCCAGCACAGGAGAAAGATGTAGGCTGGGAGCCTAGGCCAATCTCTCCTTTTCACGTTTTTCTGCCTGCTTTATATTCCCTGGCAGCTGATTAGATTGTGCCCACCAGATTAAGGTTGGGTCTGCCTTTCCCAGTCCACTGACTCAAATGTTGATCTCTTTTGGCAATACCCTCACAGACACACCCAGGATCAATACTTTGTATCCTTCAATCCAATCAAGTTGACGCTCAGTATTAACCATCATAGGTACCTTAAGAGGTAGACTTTCGACATAGATACAACTTCTGAAAGTTAATATGCAT...
Task1_train_33726
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
ACAGCAAGGAAATATGACACCTACAAAGGAAGACAATAATTCCCCAGTAAAAGACCCCAAAGAAAAGGCATATAAAATGCCTGAAGAAAAATTATTCTCTGAAAGAACCCGAGTGAGATACAAAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAA...
ACAGCAAGGAAATATGACACCTACAAAGGAAGACAATAATTCCCCAGTAAAAGACCCCAAAGAAAAGGCATATAAAATGCCTGAAGAAAAATTATTCTCTGAAAGAACCCGAGTGAGATACAAAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAA...
Task1_train_33727
Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
AAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAAGACAACTCTGTTGAAATAATTCAGGCAGACAAAGAAAAACACAAATACTCCAATTTGATTATTATACATTATATGCCTGAATCAATATATCATATGTACCCTATAAATATATACAATTATTG...
AAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAAGACAACTCTGTTGAAATAATTCAGGCAGACAAAGAAAAACACAAATACTCCAATTTGATTATTATACATTATATGCCTGAATCAATATATCATATGTACCCTATAAATATATACAATTATTG...
Task1_train_33728
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
TAATAAAGTATAAGAAAAAGAGGACTATAATTATAAAATATCAGATGCTACTAAAAAAACAAAAGGGAGGACACTGAAAAATCTCAACAGATTTTCCACAATGCACGTAATTTCTTAAATATTTAAACCAAAAATATTTCACCAATATAATTTAACTGAGGGTAGGGTAACAGTCTTTTCTCTTTTACAACTCTGCCTACTCAACTCTGACAATAGGTAGATGTACATGTCAACATAATTGATTCATGTTTAGCATACATTTTTTTCTTTAAAGGGAAAGAACAAATAATTGTGTGATTTTCCCTCTGGTAGAACTTAAA...
TAATAAAGTATAAGAAAAAGAGGACTATAATTATAAAATATCAGATGCTACTAAAAAAACAAAAGGGAGGACACTGAAAAATCTCAACAGATTTTCCACAATGCACGTAATTTCTTAAATATTTAAACCAAAAATATTTCACCAATATAATTTAACTGAGGGTAGGGTAACAGTCTTTTCTCTTTTACAACTCTGCCTACTCAACTCTGACAATAGGTAGATGTACATGTCAACATAATTGATTCATGTTTAGCATACATTTTTTTCTTTAAAGGGAAAGAACAAATAATTGTGTGATTTTCCCTCTGGTAGAACTTAAA...
Task1_train_33729
A mutation located on Chromosome 1 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
CAGAACACAAGGAAAAGTCAAAAAATCATAGAAGTATGATTACAGTTTCATGAAATCCCAAAGATCTGGAGAATTGAAAGTTGTAATGAATTTTTAAAAAAAGTTTCTGATACCTTCTCACTGAGAAATAAATTAATTAAGAGTTATTTAATTAATGGTACAAATTTTATGAACCATGGTACAGTTCATAAGAAAAGAGAGCAAATTCATCTCCATTTTGCATTTATTCTGAATAAAAATGTCCATTTACTCTGTCTTTGAATCTTCCCAGGGTATGTTTATTTCCATTTTGTATAGAGTAAGAAACAGTATCAGGAAAT...
CAGAACACAAGGAAAAGTCAAAAAATCATAGAAGTATGATTACAGTTTCATGAAATCCCAAAGATCTGGAGAATTGAAAGTTGTAATGAATTTTTAAAAAAAGTTTCTGATACCTTCTCACTGAGAAATAAATTAATTAAGAGTTATTTAATTAATGGTACAAATTTTATGAACCATGGTACAGTTCATAAGAAAAGAGAGCAAATTCATCTCCATTTTGCATTTATTCTGAATAAAAATGTCCATTTACTCTGTCTTTGAATCTTCCCAGGGTATGTTTATTTCCATTTTGTATAGAGTAAGAAACAGTATCAGGAAAT...
Task1_train_33730
Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Benign
CTTACACACATATGCATTGCTCTATCCCATGCTTCCTATTCCACAGATGGAAGTCACTCCCCACAATGGAATTCCAACTTATTATAGTTCAAGTAGTCCTAAGGTAAACTGCCTAAATATATTATTGTTTTGTATATAATATTTAATAAATAATGGAATGTACGAGAGAGAGAGCTATTATAGGTAAAAAGAAATAAAAATAGGTTGATAATCACTGATTTAGAAAGAAGCCACATCAATGATTACAATAAAAAGGTCTAATTTGTATCACAAACCTAGCACATATTGTTAGATTTCTTTCACCTTATAATATAACCAAA...
CTTACACACATATGCATTGCTCTATCCCATGCTTCCTATTCCACAGATGGAAGTCACTCCCCACAATGGAATTCCAACTTATTATAGTTCAAGTAGTCCTAAGGTAAACTGCCTAAATATATTATTGTTTTGTATATAATATTTAATAAATAATGGAATGTACGAGAGAGAGAGCTATTATAGGTAAAAAGAAATAAAAATAGGTTGATAATCACTGATTTAGAAAGAAGCCACATCAATGATTACAATAAAAAGGTCTAATTTGTATCACAAACCTAGCACATATTGTTAGATTTCTTTCACCTTATAATATAACCAAA...
Task1_train_33731
Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GGTAAAGTCTTGCTTGGCCCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACT...
GGTAAAGTCTTGCTTGGCCCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACT...
Task1_train_33732
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCA...
TGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCA...
Task1_train_33733
An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Benign
TCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCATGCTTCATGAGATTAAAAATATTTGTAGA...
TCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCATGCTTCATGAGATTAAAAATATTTGTAGA...
Task1_train_33734
Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
CAACAGAGCGAGACTCCGTTTCAAAAAAAAAAGTAGTTCACTGTAAGTGTTTAAAGGCAAATAAGTATAGTGGTAGTGGTAGTAGCAGTAGCAGTAGCAGTAGCAGTAGAAACAGTATTTGTTCTGATATTAAAAATCAAACTATATTAACATGTTAGTCTGATTTTGCATTGCTATAAAGAAATACCTGAGGCTGGGTAATTTATTAATATAAGGAAATATGCTTTATTTTGGCTCATGGTTCTGTAGGCTGTACAGGAGTCATGGTGCTGGCACCTGTTTCTGGTGAGGCCTCAGGACACCTACAGTCATGGTGGAAA...
CAACAGAGCGAGACTCCGTTTCAAAAAAAAAAGTAGTTCACTGTAAGTGTTTAAAGGCAAATAAGTATAGTGGTAGTGGTAGTAGCAGTAGCAGTAGCAGTAGCAGTAGAAACAGTATTTGTTCTGATATTAAAAATCAAACTATATTAACATGTTAGTCTGATTTTGCATTGCTATAAAGAAATACCTGAGGCTGGGTAATTTATTAATATAAGGAAATATGCTTTATTTTGGCTCATGGTTCTGTAGGCTGTACAGGAGTCATGGTGCTGGCACCTGTTTCTGGTGAGGCCTCAGGACACCTACAGTCATGGTGGAAA...
Task1_train_33735
This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
GACCTGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACG...
GACCTGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACG...
Task1_train_33736
A genomic change on Chromosome 1 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
TCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTT...
TCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTT...
Task1_train_33737
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
ATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTC...
ATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTC...
Task1_train_33738
Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
AGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTCTTGGCTTTT...
AGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTCTTGGCTTTT...
Task1_train_33739
Given this context: Chromosome 1 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
AGGAAATTCTGACACATGGGATGAACCTTGAGGACATTATGATAAGTGAAATAAGCCAGTCACAGACACACACACACACACACACACACACACACACACACAATACCACATGATTCCATTTATATGAGGTTTCTAAAACACTCAAATTTATAGAGACACAAAATAGAATGGTGGTTGCTGGGGGCTGTGTGTGAGAAGAATGGGGAGTTATTTCACAGTGGGTACAGAATTTCAATTTAGGGAGGTGAAATGAGATTCATAGATGGATATTGTGGATGGTCATACAACAATATGATTATACTTGAAGCCACTGTACTGAT...
AGGAAATTCTGACACATGGGATGAACCTTGAGGACATTATGATAAGTGAAATAAGCCAGTCACAGACACACACACACACACACACACACACACACACACACAATACCACATGATTCCATTTATATGAGGTTTCTAAAACACTCAAATTTATAGAGACACAAAATAGAATGGTGGTTGCTGGGGGCTGTGTGTGAGAAGAATGGGGAGTTATTTCACAGTGGGTACAGAATTTCAATTTAGGGAGGTGAAATGAGATTCATAGATGGATATTGTGGATGGTCATACAACAATATGATTATACTTGAAGCCACTGTACTGAT...
Task1_train_33740
A variant was discovered on Chromosome 1. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
GGACATATGTATATTTCCATGATGTTTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTG...
GGACATATGTATATTTCCATGATGTTTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTG...
Task1_train_33741
This sequence change occurs on Chromosome 1. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
TTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTGCACCAGCAGATCTAAGATGAAAATG...
TTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTGCACCAGCAGATCTAAGATGAAAATG...
Task1_train_33742
An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Benign
TCTTTGGCTCTAGACTAATATTTAAGCCTAAAAACTCTGGTTCTTTTAGGCTTACTGTGCAAAGCTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATG...
TCTTTGGCTCTAGACTAATATTTAAGCCTAAAAACTCTGGTTCTTTTAGGCTTACTGTGCAAAGCTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATG...
Task1_train_33743
This is a variant located on Chromosome 1. Is this mutation a likely cause of disease or not?
Benign
CTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAG...
CTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAG...
Task1_train_33744
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
TGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAGCAATAAGGATTTATTCTAGGTTTCTAA...
TGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAGCAATAAGGATTTATTCTAGGTTTCTAA...
Task1_train_33745
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
AGATTTTTAGTATAATCGAGATATGCCTTTTTCTTATGTCTATGTTTTAGTTAATTTTGGCATAGTTATAAGTAATTAATATATGACAATAACATAAGCATAAAATTAGAAAAACATTTAGAATTTAGGCTGATTTTCTTTCCAATCTGCATTCCTCATATATGTCCTCTGTCCTCTCTCTAGTACAAAAAGGGTTTCCAGTTCATTGTGTATCATTCCATAGGTAGACACATATATGACCATATATTATTTTTATTAATTACTATTCTGCATCTTACTTTTATTAATGTTGTTATGGTAAAATTTAAAACACATACACA...
AGATTTTTAGTATAATCGAGATATGCCTTTTTCTTATGTCTATGTTTTAGTTAATTTTGGCATAGTTATAAGTAATTAATATATGACAATAACATAAGCATAAAATTAGAAAAACATTTAGAATTTAGGCTGATTTTCTTTCCAATCTGCATTCCTCATATATGTCCTCTGTCCTCTCTCTAGTACAAAAAGGGTTTCCAGTTCATTGTGTATCATTCCATAGGTAGACACATATATGACCATATATTATTTTTATTAATTACTATTCTGCATCTTACTTTTATTAATGTTGTTATGGTAAAATTTAAAACACATACACA...
Task1_train_33746
A change on Chromosome 1 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
ACATACACACACATAGCCATAGGCAAGATAACCACAAGGAAACAAGGTATGATAAATTGAACACCTGTGTGACCACTTGCCAGTTCAGGATATAGACCAATGTCAGCACGCTCAGAAGCCCTTTGCATTCCCATTTCCAAACAAAAAGTCCTCCTTCCACCTGAATGTAATTACTATCTTATCTTGTAGTAATACTCTTCATACTTTATTTATAAGTTCTAAAGAAATGTGTAAACAGTGTACATTAATTTTAAACCACTTATTCTACTGAGTTTGGCCTCCAGTGAGTTTTGTGTTTATGACACATTCCTGTCTCTCAT...
ACATACACACACATAGCCATAGGCAAGATAACCACAAGGAAACAAGGTATGATAAATTGAACACCTGTGTGACCACTTGCCAGTTCAGGATATAGACCAATGTCAGCACGCTCAGAAGCCCTTTGCATTCCCATTTCCAAACAAAAAGTCCTCCTTCCACCTGAATGTAATTACTATCTTATCTTGTAGTAATACTCTTCATACTTTATTTATAAGTTCTAAAGAAATGTGTAAACAGTGTACATTAATTTTAAACCACTTATTCTACTGAGTTTGGCCTCCAGTGAGTTTTGTGTTTATGACACATTCCTGTCTCTCAT...
Task1_train_33747
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
ATATTAACTTCATTATTATTTTGCTATATGCATTTCTAAGAAAGTCCTTAAGCACATATTGTTCCTCCAATATGATTTCCCTACTTTTTTTATCTTTCCTAAATTACAATTTTTTCATATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGA...
ATATTAACTTCATTATTATTTTGCTATATGCATTTCTAAGAAAGTCCTTAAGCACATATTGTTCCTCCAATATGATTTCCCTACTTTTTTTATCTTTCCTAAATTACAATTTTTTCATATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGA...
Task1_train_33748
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTT...
TATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTT...
Task1_train_33749
Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant?
Benign
CAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTT...
CAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTT...
Task1_train_33750
This variant is present on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Benign
CTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTT...
CTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTT...
Task1_train_33751
The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAA...
TGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAA...
Task1_train_33752
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
AATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAAAGACAAAATGTGTAACCTATTTGGTAAGGCATCTGCTTTAACTAGAGAATTTTGAAATTAGGCAAGGAGGCAAAAGAGAATGGATGATGATGAATATT...
AATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAAAGACAAAATGTGTAACCTATTTGGTAAGGCATCTGCTTTAACTAGAGAATTTTGAAATTAGGCAAGGAGGCAAAAGAGAATGGATGATGATGAATATT...
Task1_train_33753
Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Benign
TTTATTTTTCTATAGAATCGTAATCACTACATAACATCACTGTATGTTTGAGTTTGTTGGTCTATTGTTTGTATAATTATCTCAATTTTAATTACATATTCTAAAATCCTTTGTGTTTCATCACCAAAGCACATCAGTAGCTAGCAGCACTGTCATAAAACATAAATTCAGTGAACACTATTTGAGGAAATGAATGTATCATAATGATGGTTTTCATGTTTTTTTCTGATCAGTTTTTATTTCTAAAGCACTATAAGAAGCAGAGAGTGCCTGTGATCCCATTTGGCATCCAAGTCCAATGCTACTGTGCACCTGTCATG...
TTTATTTTTCTATAGAATCGTAATCACTACATAACATCACTGTATGTTTGAGTTTGTTGGTCTATTGTTTGTATAATTATCTCAATTTTAATTACATATTCTAAAATCCTTTGTGTTTCATCACCAAAGCACATCAGTAGCTAGCAGCACTGTCATAAAACATAAATTCAGTGAACACTATTTGAGGAAATGAATGTATCATAATGATGGTTTTCATGTTTTTTTCTGATCAGTTTTTATTTCTAAAGCACTATAAGAAGCAGAGAGTGCCTGTGATCCCATTTGGCATCCAAGTCCAATGCTACTGTGCACCTGTCATG...
Task1_train_33754
Consider a variant on Chromosome 1. Determine its clinical classification and disease relevance.
Benign
GCATGTTTCGAAAGCATGCATCTCATGCTTTTCTGAAATTCCGTTTTTCTTTGTACTTATTCTTCAGAGGAGATATTGGGTGTATTAGTTCCCTAGGAATGAGAATACAGAGTATCACAAACTGGTTACCTAAAACAACAGAAATTTGTTCTCTCACAGTTCTGCAGGCTAGAAATCTGAAATCAAGTTGTCAGCAGGGTTGGTTATTTCTGAAGGCTCTAAGAGGAGGAATCTTTCCCATTACTTTCTCCCAGGTTCTTGTGATAACTAACAGTTTTTGGCATTTCTTGGTTTGCAGATGCACCACTCCAATCCCTGCC...
GCATGTTTCGAAAGCATGCATCTCATGCTTTTCTGAAATTCCGTTTTTCTTTGTACTTATTCTTCAGAGGAGATATTGGGTGTATTAGTTCCCTAGGAATGAGAATACAGAGTATCACAAACTGGTTACCTAAAACAACAGAAATTTGTTCTCTCACAGTTCTGCAGGCTAGAAATCTGAAATCAAGTTGTCAGCAGGGTTGGTTATTTCTGAAGGCTCTAAGAGGAGGAATCTTTCCCATTACTTTCTCCCAGGTTCTTGTGATAACTAACAGTTTTTGGCATTTCTTGGTTTGCAGATGCACCACTCCAATCCCTGCC...
Task1_train_33755
A variant affecting Chromosome 1 has been observed. Determine if it's benign or associated with disease.
Benign
TTCCCTTGACTACTCTGTTCAAAGATGAACATGCTCACACAATTCTAACACCCATCTTTGACTTACTTTTCTCCAAAACATTTATCCTTTTATGATATAAAGTGGTTTATAGTCATCATCTGATCGCACTCACTATGACCTGTATGAACAGGGGCTTTCTTTGATCTAATTACTGTGGTAGCCACAGTGGTCAACATATAGCCAGACTTCACAAGTGTTGTTTGAAAGGGTGGATCTCATGCTTTTCTGAATTTCTGTTTTTGTATGTACTTATTTTCTAGAGGAGATATTGTGTGTATTAGTTTCCTAAGAATGCCAAT...
TTCCCTTGACTACTCTGTTCAAAGATGAACATGCTCACACAATTCTAACACCCATCTTTGACTTACTTTTCTCCAAAACATTTATCCTTTTATGATATAAAGTGGTTTATAGTCATCATCTGATCGCACTCACTATGACCTGTATGAACAGGGGCTTTCTTTGATCTAATTACTGTGGTAGCCACAGTGGTCAACATATAGCCAGACTTCACAAGTGTTGTTTGAAAGGGTGGATCTCATGCTTTTCTGAATTTCTGTTTTTGTATGTACTTATTTTCTAGAGGAGATATTGTGTGTATTAGTTTCCTAAGAATGCCAAT...
Task1_train_33756
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
AATGAACCTGGTATGAGTAATGAAATTTCCATGACTACATTTACTTGTGTAAATTTCACCCATTCTAAGAGAAGATTTTTTTAGATGGTATAAATGACAGAATTTGTGCAGTTCTGCTCCTTTCTCACCCTAACACTGGGTAAGGAGATAAAATTAACAAGAGTAGCAAACAAAAGTATCAAACAGATGACACTCTCTCCTTTCATCCTCAAGTCTTCCAAGGAGAAAAGAGTTACTGAATAACCTTCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAAC...
AATGAACCTGGTATGAGTAATGAAATTTCCATGACTACATTTACTTGTGTAAATTTCACCCATTCTAAGAGAAGATTTTTTTAGATGGTATAAATGACAGAATTTGTGCAGTTCTGCTCCTTTCTCACCCTAACACTGGGTAAGGAGATAAAATTAACAAGAGTAGCAAACAAAAGTATCAAACAGATGACACTCTCTCCTTTCATCCTCAAGTCTTCCAAGGAGAAAAGAGTTACTGAATAACCTTCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAAC...
Task1_train_33757
A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
TCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAACCTGAAGCTCTAGATGAAGCAGAAAACTCCTTTCATTTGTTCTAAAACAAGTCCCTTTTGAAATTCAGGATGGCCAGAAATGGCAGGTTAACTTTCAGACACTTATATTGAAGATACACTGTCCCTGGAAGCTCTTAGTTATGTCCCACTGTGTGTTTAAAACTTATATTATTTCTTAAGTGTGTTTTACATACAGGAAATATAGCCTTTATCATAAAACTCTCTAAGACGATTTGATATCCAGTCT...
TCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAACCTGAAGCTCTAGATGAAGCAGAAAACTCCTTTCATTTGTTCTAAAACAAGTCCCTTTTGAAATTCAGGATGGCCAGAAATGGCAGGTTAACTTTCAGACACTTATATTGAAGATACACTGTCCCTGGAAGCTCTTAGTTATGTCCCACTGTGTGTTTAAAACTTATATTATTTCTTAAGTGTGTTTTACATACAGGAAATATAGCCTTTATCATAAAACTCTCTAAGACGATTTGATATCCAGTCT...
Task1_train_33758
A sequence alteration has been identified on Chromosome 1. Is it disease-inducing or harmless?
Benign
GATCAGATAACTAGTCTGAAATACCACTTCTTTGAAACATGTCTATTTTTATACATATTTTGTGTTTTTATTAATGTCTTACGTTTGCTTGGAGATAATGTTCATTCCGTGGTTTTGTTGTTGTTGTTGTTTTAGTTTTCTCCTGAACATTAGGCTTAATTTTCTGGTTAGAATATTTTATCCTTACAAAATTTTAAAGGCTTAGTTTACCATTTGTAACTCAACGTGTTCTAAAATAATTTCTCTGATGGTGCATGAACCTGGTATGAGTAATGAAATTTCCACGACTACATGTACTTGTGTAATTTTCACCCATTCTA...
GATCAGATAACTAGTCTGAAATACCACTTCTTTGAAACATGTCTATTTTTATACATATTTTGTGTTTTTATTAATGTCTTACGTTTGCTTGGAGATAATGTTCATTCCGTGGTTTTGTTGTTGTTGTTGTTTTAGTTTTCTCCTGAACATTAGGCTTAATTTTCTGGTTAGAATATTTTATCCTTACAAAATTTTAAAGGCTTAGTTTACCATTTGTAACTCAACGTGTTCTAAAATAATTTCTCTGATGGTGCATGAACCTGGTATGAGTAATGAAATTTCCACGACTACATGTACTTGTGTAATTTTCACCCATTCTA...
Task1_train_33759
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
ATCTAGATGAAGCAGGAAACTCCTTTCACTTGTTCTAGAACAGTTACCTTTTGAAATTCAGGTTGGTCTGAAATGGCGGGTTAACTTTCAGACACTTATATTGAAGATACATTGTCCCTGGAAGCTCTTAGTTATTTCCTCCTTCGTGTTAAAAACTTATATTATTTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTC...
ATCTAGATGAAGCAGGAAACTCCTTTCACTTGTTCTAGAACAGTTACCTTTTGAAATTCAGGTTGGTCTGAAATGGCGGGTTAACTTTCAGACACTTATATTGAAGATACATTGTCCCTGGAAGCTCTTAGTTATTTCCTCCTTCGTGTTAAAAACTTATATTATTTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTC...
Task1_train_33760
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATT...
TTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATT...
Task1_train_33761
A variant was discovered on Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
GAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATTCAGCATGATCATGCAATTCAGAGT...
GAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATTCAGCATGATCATGCAATTCAGAGT...
Task1_train_33762
Given this context: Chromosome 1 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TCTGGAAATATCACATTACCCAACTTCAGATTGTACTATAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAAC...
TCTGGAAATATCACATTACCCAACTTCAGATTGTACTATAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAAC...
Task1_train_33763
Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Benign
TAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAACCATAAAGATTCTAGAAGATAACATCGGGAACACCCTTC...
TAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAACCATAAAGATTCTAGAAGATAACATCGGGAACACCCTTC...
Task1_train_33764
A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TAACATCGGGAACACCCTTCTAGATATTGGCTTAGGCAAAGACTTCATGATCGAGAACCCAAAAGAAAATGCAAAAAAAAAAAAAAAAAAGAGGTGCGGGGATAAAAGATAAGACTAAATTAAACTAAAAAACTTCTGCAAAGCAAAAGAAATAATCAACAGAGTTAACAGACAACCCAGAGAGTGGGAGAAAATCTTCTCAATCTATACATCTGGCAATGGAATAATATCCAGAATCTACAAAGAACTCAAACAAATTAGCAAGAAGAAAACAAACAATCCCATCAAACTGGGATTGGGCTAAGGGACTTGAATAGACA...
TAACATCGGGAACACCCTTCTAGATATTGGCTTAGGCAAAGACTTCATGATCGAGAACCCAAAAGAAAATGCAAAAAAAAAAAAAAAAAAGAGGTGCGGGGATAAAAGATAAGACTAAATTAAACTAAAAAACTTCTGCAAAGCAAAAGAAATAATCAACAGAGTTAACAGACAACCCAGAGAGTGGGAGAAAATCTTCTCAATCTATACATCTGGCAATGGAATAATATCCAGAATCTACAAAGAACTCAAACAAATTAGCAAGAAGAAAACAAACAATCCCATCAAACTGGGATTGGGCTAAGGGACTTGAATAGACA...
Task1_train_33765
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
ACTTATTCTGTTTCATTTATTCACAAAACTCCTGTGATAGCAGCATTAGGTGTATATATTGATTGAACAATCAGTGAATCAAGGACTACGTCACTGAATGAGCCCATATTGTTTAAATTGATCACAGTAGTACACACCATGATTCTGCTTTTACAGATGGAGGGAATTTTCCTTGGGTGAAGAATGTTGCCAACTTTACATGGCTGGTAAGTGGGAGTGATACAGCCCAAGCCTCCTGTCTCCCTCTTCTACAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTG...
ACTTATTCTGTTTCATTTATTCACAAAACTCCTGTGATAGCAGCATTAGGTGTATATATTGATTGAACAATCAGTGAATCAAGGACTACGTCACTGAATGAGCCCATATTGTTTAAATTGATCACAGTAGTACACACCATGATTCTGCTTTTACAGATGGAGGGAATTTTCCTTGGGTGAAGAATGTTGCCAACTTTACATGGCTGGTAAGTGGGAGTGATACAGCCCAAGCCTCCTGTCTCCCTCTTCTACAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTG...
Task1_train_33766
This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant?
Benign
CAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATC...
CAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATC...
Task1_train_33767
This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant?
Benign
ACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATCCTAGTAGCCACTAGTTAT...
ACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATCCTAGTAGCCACTAGTTAT...
Task1_train_33768
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
CCAGTCTCCGCATCTAATTATTATTCTCCAAAACTTGAAAATATTAATAAGTCTAATTAGAATTATTAAAAGAATTCAAAATGTATTTGAAACTTGGAAATTCTTCCTGAAATATGACTGTATGATAACCACTGCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGC...
CCAGTCTCCGCATCTAATTATTATTCTCCAAAACTTGAAAATATTAATAAGTCTAATTAGAATTATTAAAAGAATTCAAAATGTATTTGAAACTTGGAAATTCTTCCTGAAATATGACTGTATGATAACCACTGCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGC...
Task1_train_33769
This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
GCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGT...
GCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGT...
Task1_train_33770
This variant is present on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Benign
GTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTG...
GTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTG...
Task1_train_33771
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTGAAAAAATTCACTGTAGCAGGCAATAAAGCAGATATTTGCAAAAAC...
CTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTGAAAAAATTCACTGTAGCAGGCAATAAAGCAGATATTTGCAAAAAC...
Task1_train_33772
The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
GCCTTACCTGGTAAATAGCAGGGAGTTTCTAAATCCCAGTTATGCCCCCCTGAGATTTAATGCGAATGACAGGAGCTTTAAGGAGTTAAGCTTGGAGAAGCATGCACTAGTCACAAAGAAGGTGGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAA...
GCCTTACCTGGTAAATAGCAGGGAGTTTCTAAATCCCAGTTATGCCCCCCTGAGATTTAATGCGAATGACAGGAGCTTTAAGGAGTTAAGCTTGGAGAAGCATGCACTAGTCACAAAGAAGGTGGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAA...
Task1_train_33773
A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAATTATCAAATCCAAATTCTTACAAGTCTGACTAAATGATAAAATCAGCAAACTGAAGTAATGAAGCTCATATCATAAGATGATTATAGTAATACAGTCTGCAGAATAATTTGTGTAGATATTAA...
GGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAATTATCAAATCCAAATTCTTACAAGTCTGACTAAATGATAAAATCAGCAAACTGAAGTAATGAAGCTCATATCATAAGATGATTATAGTAATACAGTCTGCAGAATAATTTGTGTAGATATTAA...
Task1_train_33774
Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
AGACAATGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATAT...
AGACAATGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATAT...
Task1_train_33775
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
TGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATATCCTAAT...
TGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATATCCTAAT...
Task1_train_33776
A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
CTATCTAAGATTGTGTATGGTTTCCTGCCTCTGGCCTACAAGATCTTTTATGCATTTCCTTCAGTCACCATCTCCAAGGCTTACGACTGACCAACCAAATCAGGAAGTTTTGAGTGAAATGAGGAGGACATTAGGACAGAAAGCACAACCTGGTCTATCCCAGTCTAAGCCTTCAAGACCCACAAAAATACAACACTAAGCAAAAACAAAAAATGACTCAAATGTACCAAAGAGATAAAAAGAAAAAAACAGAAAGATCATAATGAACATGTTAAAGTTAAACTGTTACATGTTACAAACTGCAACTCAATTCTACTGAT...
CTATCTAAGATTGTGTATGGTTTCCTGCCTCTGGCCTACAAGATCTTTTATGCATTTCCTTCAGTCACCATCTCCAAGGCTTACGACTGACCAACCAAATCAGGAAGTTTTGAGTGAAATGAGGAGGACATTAGGACAGAAAGCACAACCTGGTCTATCCCAGTCTAAGCCTTCAAGACCCACAAAAATACAACACTAAGCAAAAACAAAAAATGACTCAAATGTACCAAAGAGATAAAAAGAAAAAAACAGAAAGATCATAATGAACATGTTAAAGTTAAACTGTTACATGTTACAAACTGCAACTCAATTCTACTGAT...
Task1_train_33777
A mutation has occurred on Chromosome 1. What is the medical relevance of this mutation?
Benign
ATAAAAGATCATCCTTTATATTCTTGAAGTTTGTTGTGGATTTTACTGTAACCTGAAATTGTATAAAACAGTCCCTCAGTTTTTCTTAATTGCCAGAGCTACGGAAAAATTCCAATTTCCAAAAATCATCGGTGAGTTATACCTCAATATGTATGTCCCTGTGCTATTACATATACGTGTGTGTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGACCACTGTTTGACTTTGTGAAGCAGCACATGATTTTCCCTCTGTTTCTGGTGTCTTATCGCATGATAAAAGTCAAACCGAAAATGTAGGAAGTG...
ATAAAAGATCATCCTTTATATTCTTGAAGTTTGTTGTGGATTTTACTGTAACCTGAAATTGTATAAAACAGTCCCTCAGTTTTTCTTAATTGCCAGAGCTACGGAAAAATTCCAATTTCCAAAAATCATCGGTGAGTTATACCTCAATATGTATGTCCCTGTGCTATTACATATACGTGTGTGTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGACCACTGTTTGACTTTGTGAAGCAGCACATGATTTTCCCTCTGTTTCTGGTGTCTTATCGCATGATAAAAGTCAAACCGAAAATGTAGGAAGTG...
Task1_train_33778
Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TGTGCCTCTCGGGAAATATTTACGGAATGAATTGATGTCTACTTTGTCCTGTTGGAAAACAGCATAGAACAAATTATACTGTCACTGTTTAAAGAACAATGTTCCTCCTTGGGGAAGTTTCCTTAAGCCTCATTTTCAACTGTAGAATGGTCTAGTATCTTACACAGTTGTTTGGAAATGTAAAATTTACGAATCAGTTATTAATGTTCTTACTGCTATTTGCAGGTGAATGCATATACAAGTAAAGCCATTTTTCTAATTTGGTACACACCTAAATTTTTTGGCTCAATTCTAATTTGTGGTGTTTAATTCTGGAGGAC...
TGTGCCTCTCGGGAAATATTTACGGAATGAATTGATGTCTACTTTGTCCTGTTGGAAAACAGCATAGAACAAATTATACTGTCACTGTTTAAAGAACAATGTTCCTCCTTGGGGAAGTTTCCTTAAGCCTCATTTTCAACTGTAGAATGGTCTAGTATCTTACACAGTTGTTTGGAAATGTAAAATTTACGAATCAGTTATTAATGTTCTTACTGCTATTTGCAGGTGAATGCATATACAAGTAAAGCCATTTTTCTAATTTGGTACACACCTAAATTTTTTGGCTCAATTCTAATTTGTGGTGTTTAATTCTGGAGGAC...
Task1_train_33779
Given this variant on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
GCCTTAGAATGGTGAAAGCAGCTTCACTGAGCTGGCGTGGCTTAGATTTATTGTCTGATGGAACAGAAAAGATGGAGCAAAAGGTTTGTGCTCTATGTGCCGTGTTCGTCTCTTTGTTGAAAGGTGTCTTGATGACCTGTCTCTTCAGTGCTTTATAAAGGGGATAAGTAAGGAACAAAGATACCTGACTCTTGTTGCTAGCTCTTCATAATTCTGACTTTAGGTTTCCTGAAGTCCCAGGGTTTTTTTTTGTTTTGTCTCTTGTTTTGTGTGTGTGCTTTGTTTTTGTTTTGTTTTTTTGTTTTTTTGCCCTAGGAACA...
GCCTTAGAATGGTGAAAGCAGCTTCACTGAGCTGGCGTGGCTTAGATTTATTGTCTGATGGAACAGAAAAGATGGAGCAAAAGGTTTGTGCTCTATGTGCCGTGTTCGTCTCTTTGTTGAAAGGTGTCTTGATGACCTGTCTCTTCAGTGCTTTATAAAGGGGATAAGTAAGGAACAAAGATACCTGACTCTTGTTGCTAGCTCTTCATAATTCTGACTTTAGGTTTCCTGAAGTCCCAGGGTTTTTTTTTGTTTTGTCTCTTGTTTTGTGTGTGTGCTTTGTTTTTGTTTTGTTTTTTTGTTTTTTTGCCCTAGGAACA...
Task1_train_33780
A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TACTTATGTAACGTGCACGTTCTGCACATGTACCCTAGAACTTATAGTTTAAAAAAAAGTTTGCTTTGGCTTTCGATGTAATTCTACTTAGACAACTCTTATACATATAGAGTAACATGTACACACATTTCATTTTACAAATTCTCCCTTTTATTTTGACTTGGCATTTGACAATATCACTTTGATAGTAGCTTGTGAATATTAGTCAAGATTTGTATAGAGGTCGGGCACAGTGACTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGTCAGGTGGATCACTTGAGGTCAGTTGTTCAAGAGCACCCTAGCCAACA...
TACTTATGTAACGTGCACGTTCTGCACATGTACCCTAGAACTTATAGTTTAAAAAAAAGTTTGCTTTGGCTTTCGATGTAATTCTACTTAGACAACTCTTATACATATAGAGTAACATGTACACACATTTCATTTTACAAATTCTCCCTTTTATTTTGACTTGGCATTTGACAATATCACTTTGATAGTAGCTTGTGAATATTAGTCAAGATTTGTATAGAGGTCGGGCACAGTGACTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGTCAGGTGGATCACTTGAGGTCAGTTGTTCAAGAGCACCCTAGCCAACA...
Task1_train_33781
A genetic alteration is present on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
TTTTCCAAAGAGGCAATACAAATAGCCAACAGGTGAATGAAAAGATGTTCAACATCACTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTAT...
TTTTCCAAAGAGGCAATACAAATAGCCAACAGGTGAATGAAAAGATGTTCAACATCACTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTAT...
Task1_train_33782
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
CTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTATATAAATAATATAATGACAACATAAGAACATTGTTAAATTAGTCATCTGTGGTGTCCA...
CTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTATATAAATAATATAATGACAACATAAGAACATTGTTAAATTAGTCATCTGTGGTGTCCA...
Task1_train_33783
With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ATATCTTCAACATGATTTTTCATACATTTAAGTTTTGCACAAATCTAAACTGTATATTACATTAAAATTATTGCTAAGTCAATATTGATTATGACTCATTTACATATTACTCTTTGGGGTTGATGTTTGTCATTTTTGCTTATATTTCTGAGTTTACTTTTGAGATAATTTTTCTATGGCTGAAGAATTTTATCCACTTTTGTTTGTTGGAAAAATTTATTTTACTATCATTTTTTATAATTGGAGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGG...
ATATCTTCAACATGATTTTTCATACATTTAAGTTTTGCACAAATCTAAACTGTATATTACATTAAAATTATTGCTAAGTCAATATTGATTATGACTCATTTACATATTACTCTTTGGGGTTGATGTTTGTCATTTTTGCTTATATTTCTGAGTTTACTTTTGAGATAATTTTTCTATGGCTGAAGAATTTTATCCACTTTTGTTTGTTGGAAAAATTTATTTTACTATCATTTTTTATAATTGGAGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGG...
Task1_train_33784
Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
AGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAA...
AGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAA...
Task1_train_33785
This genomic variant is located on Chromosome 1. Can you determine its pathogenicity and name any linked disease?
Benign
ATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAAGTGCTAAAAAAGATGAAGATTTTTATTTGTTTTGCTCACTGATGTATCCTCAGTTTGTAGAAC...
ATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAAGTGCTAAAAAAGATGAAGATTTTTATTTGTTTTGCTCACTGATGTATCCTCAGTTTGTAGAAC...
Task1_train_33786
A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
ACTAAGGTTACAAGTAACCTTTCATGTTGCTAAATACAGTAACCAAATCTCACTTATTTCAACCATAGACTGCACTTGTTGCAGTTGCTTTTACTTTCTTTAAACACTTTGTCTTAGATTTCTTCTAACCTCATAAAACCCTATCTTTCTAATTTTTCATGTGACGCCAGCTGCCTCAGATCTCAGTCTCAAGCTTTCTCTTAAGAAAACTCTCAAAAAACCTGTTTTTAAATGCTCTTCGTACTCTGATTATTAAATGTATGCTTTATGTTCAGAACTCTAATCTGAAGTACAATTGACTTTACATATAGCTTCAATAT...
ACTAAGGTTACAAGTAACCTTTCATGTTGCTAAATACAGTAACCAAATCTCACTTATTTCAACCATAGACTGCACTTGTTGCAGTTGCTTTTACTTTCTTTAAACACTTTGTCTTAGATTTCTTCTAACCTCATAAAACCCTATCTTTCTAATTTTTCATGTGACGCCAGCTGCCTCAGATCTCAGTCTCAAGCTTTCTCTTAAGAAAACTCTCAAAAAACCTGTTTTTAAATGCTCTTCGTACTCTGATTATTAAATGTATGCTTTATGTTCAGAACTCTAATCTGAAGTACAATTGACTTTACATATAGCTTCAATAT...
Task1_train_33787
This variant is located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Benign
TTCTGTATTTATGTATTTATCTTGAGACAAGGCCTCTCTGCCAGTCAGGCTGGAGCACAGTGGTGCCATCACGGCTCACTGCAGCCTCAACTTCTCAGCCTCCCGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACATCCAACTGATATTTGTGTTTTTGGTAGATGGGGTTTTGCTATGTTGGCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCACCCTCCTTGGTCTCCACTAAAGTGCTGGGAGTACAGGTATGAGCTACTGCACCCGGCCTAGCTTAAATACCTAATA...
TTCTGTATTTATGTATTTATCTTGAGACAAGGCCTCTCTGCCAGTCAGGCTGGAGCACAGTGGTGCCATCACGGCTCACTGCAGCCTCAACTTCTCAGCCTCCCGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACATCCAACTGATATTTGTGTTTTTGGTAGATGGGGTTTTGCTATGTTGGCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCACCCTCCTTGGTCTCCACTAAAGTGCTGGGAGTACAGGTATGAGCTACTGCACCCGGCCTAGCTTAAATACCTAATA...
Task1_train_33788
A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
GTCTTTCTCCAGAGCCACAAATGGGTTACAACCAATATTGATCCTCTCAACCCTGGATTGGTCTTCAGTGCCCGATTTGGCTACAGCCACAGGGGAGTTGATTTTGCTGTCAACAGCCACATCAGTTTTCCTCAAGGTGCCATATCACTAATTTTTATAGTTATGTCATGAAAGCATTTGAGAAGTGCTGCTGTATCAGTTGGGAAAATTGTTAATACAAGCCCAACCTAAGGAAAAAATAACAGACCTGTGAACAGTGTATTGATTGGTATTAGTTTCTAACTCCTGTTCATGTGTCACAATACTTTGTCTAGTGTTGA...
GTCTTTCTCCAGAGCCACAAATGGGTTACAACCAATATTGATCCTCTCAACCCTGGATTGGTCTTCAGTGCCCGATTTGGCTACAGCCACAGGGGAGTTGATTTTGCTGTCAACAGCCACATCAGTTTTCCTCAAGGTGCCATATCACTAATTTTTATAGTTATGTCATGAAAGCATTTGAGAAGTGCTGCTGTATCAGTTGGGAAAATTGTTAATACAAGCCCAACCTAAGGAAAAAATAACAGACCTGTGAACAGTGTATTGATTGGTATTAGTTTCTAACTCCTGTTCATGTGTCACAATACTTTGTCTAGTGTTGA...
Task1_train_33789
A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
TCAAGAACCCTGAGTAGTCACTCAGGAACACTCACACCTGCTCTGGTGGGACAGGTGTCATTTGAGCCTTATCAGGTATAGCTGGTCCTGAGTCCACCTCCATAAATTTCAGGTCTAGAAGCTGAAGAAAGCTAGCACATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTAT...
TCAAGAACCCTGAGTAGTCACTCAGGAACACTCACACCTGCTCTGGTGGGACAGGTGTCATTTGAGCCTTATCAGGTATAGCTGGTCCTGAGTCCACCTCCATAAATTTCAGGTCTAGAAGCTGAAGAAAGCTAGCACATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTAT...
Task1_train_33790
The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
ATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTATTATGCAATAAAACATTTACATTCATTTAGAATTATAAACAATATTTAATGTTTTAAATGTACTTTCAAGAACAGGAAAAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCT...
ATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTATTATGCAATAAAACATTTACATTCATTTAGAATTATAAACAATATTTAATGTTTTAAATGTACTTTCAAGAACAGGAAAAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCT...
Task1_train_33791
This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign?
Benign
AAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCTAAGCAAAGAATTCTTTCTCCTGTGTTGTAGCACTTTGAGTAACTTTTTTCCTTGTTTTATAAAATTAAAGCAGGACAGTTTTTAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTA...
AAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCTAAGCAAAGAATTCTTTCTCCTGTGTTGTAGCACTTTGAGTAACTTTTTTCCTTGTTTTATAAAATTAAAGCAGGACAGTTTTTAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTA...
Task1_train_33792
Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Benign
TAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTAAAAGTGAGATTTGGGATGTAAAGTCCAGTGCCTAATGGAGAGGTCAGCCTCACACACAACTGCGATGGGCTAATGACAGTTCACACATCAAGACTCTTATCCTGAACCAACTAAGAATATCAGTGTTTCCACGAATCCTCTTC...
TAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTAAAAGTGAGATTTGGGATGTAAAGTCCAGTGCCTAATGGAGAGGTCAGCCTCACACACAACTGCGATGGGCTAATGACAGTTCACACATCAAGACTCTTATCCTGAACCAACTAAGAATATCAGTGTTTCCACGAATCCTCTTC...
Task1_train_33793
A sequence alteration has been identified on Chromosome 1. Is it disease-inducing or harmless?
Benign
AGCACATAAATGCTATCCCTTGCTACCAGGCAAATGTGAAATGTTATTTATAAGACAGGTAGAACCTATGTTTTATGACAAATTTTAAAGATAATGTGAAATGTTATTTTTTATAGGACAGGTAGAACCTATGTTTAATGAAAAAATTTGAAGATAATCTTTTGTCCAAATGCTATAAATGATACAGTCACTTTGAAGCATTTCATTGTATCATTAAAACAAGTAATTGAAAAGAATTGCACTCTTGGCAAAGCGCGGTGGCGAACTCCTGTAATCCCAGCACTTTCGGAGGTTGAGGTAGGTGGATCACCTGAGGTGAG...
AGCACATAAATGCTATCCCTTGCTACCAGGCAAATGTGAAATGTTATTTATAAGACAGGTAGAACCTATGTTTTATGACAAATTTTAAAGATAATGTGAAATGTTATTTTTTATAGGACAGGTAGAACCTATGTTTAATGAAAAAATTTGAAGATAATCTTTTGTCCAAATGCTATAAATGATACAGTCACTTTGAAGCATTTCATTGTATCATTAAAACAAGTAATTGAAAAGAATTGCACTCTTGGCAAAGCGCGGTGGCGAACTCCTGTAATCCCAGCACTTTCGGAGGTTGAGGTAGGTGGATCACCTGAGGTGAG...
Task1_train_33794
Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
AAAAAACAGTATAAAGAGGTTCGGGGCTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACCTTCGGAGACCGAGGCGGGCGGATCACTTGAGTTCAGGTGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTGTACTACAAATACAAAAAGTAGCCAGGTGTGGTGGCACATGTGTATAATCCCAGCTACCCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAACCAAAAAG...
AAAAAACAGTATAAAGAGGTTCGGGGCTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACCTTCGGAGACCGAGGCGGGCGGATCACTTGAGTTCAGGTGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTGTACTACAAATACAAAAAGTAGCCAGGTGTGGTGGCACATGTGTATAATCCCAGCTACCCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAACCAAAAAG...
Task1_train_33795
A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
CCAGGGTGACGGGACCCACAAAGGAAGGTAAAAGGTCCCACAGAGGAAGGTGGAGTTCCACCACTCACCACTGTGCAGCTTCATGTGCTCCTTCAGGTGTTTCTTAAAGTTGAAAGACTTCCCACAGGCTGGCTCTGGGCAGGAGAAAGACTTCTGGTGGATGTGCTGGTACTTTTTGTGGTGCTAGAGAAGGAAGTGGGTGGTAGGGAGAGAAGAGGCAAAAGGATAGCCACCTTCCACGGAGAGATGAACTGAGCTGACCCGGCAGGCATGCTCCTCTGTCCCCTTCCTGGCCCCTGTGCCCCAGCAGTTCTCCCTGT...
CCAGGGTGACGGGACCCACAAAGGAAGGTAAAAGGTCCCACAGAGGAAGGTGGAGTTCCACCACTCACCACTGTGCAGCTTCATGTGCTCCTTCAGGTGTTTCTTAAAGTTGAAAGACTTCCCACAGGCTGGCTCTGGGCAGGAGAAAGACTTCTGGTGGATGTGCTGGTACTTTTTGTGGTGCTAGAGAAGGAAGTGGGTGGTAGGGAGAGAAGAGGCAAAAGGATAGCCACCTTCCACGGAGAGATGAACTGAGCTGACCCGGCAGGCATGCTCCTCTGTCCCCTTCCTGGCCCCTGTGCCCCAGCAGTTCTCCCTGT...
Task1_train_33796
The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
CTCCCTTTTCTCCATAACTCTGCTTTTTTCCAGCCTACCTGCAAGCTCCTGCCCACTCGTGGCCTCGGAACACCAACTTCTCCGAGTAGTATGTGGAAGGGAGGCTGGCTTGGGTGCCTCTGAAGGTGTAGGGCTCAAAGAGGGTCCCCAGGAGAAGGTATGGCCTGCTGAGCACTCCCACACAAGCCCCCCATCTTGGCCGCCAGGCCCCCGAAGCCCGGGCACCAGGCTGCACTCTCGGCTGTGGGCATGAGACAAGAGCACCAGATACTGCAGACCTTTTGGAGGCAAAGGCTCAGGACCTGGAGGGGTGGGGGAAG...
CTCCCTTTTCTCCATAACTCTGCTTTTTTCCAGCCTACCTGCAAGCTCCTGCCCACTCGTGGCCTCGGAACACCAACTTCTCCGAGTAGTATGTGGAAGGGAGGCTGGCTTGGGTGCCTCTGAAGGTGTAGGGCTCAAAGAGGGTCCCCAGGAGAAGGTATGGCCTGCTGAGCACTCCCACACAAGCCCCCCATCTTGGCCGCCAGGCCCCCGAAGCCCGGGCACCAGGCTGCACTCTCGGCTGTGGGCATGAGACAAGAGCACCAGATACTGCAGACCTTTTGGAGGCAAAGGCTCAGGACCTGGAGGGGTGGGGGAAG...
Task1_train_33797
A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation?
Benign
GTCTGTGTTTTAAACAACTTTCTGTCTTCAGGTTAGGGCACAGTGCTTGGCACATAGAGTTGGCATACAAAATATGTTTGTTGAATAAGTCATATTACCCTTTTCCATAGGACTTTCTATTTCTCCTCATAGTGGCTACGCAAAGTTCAAATGTTGGCCCAGTGTTTTAGGGCTCCTGTATACCAGCCCGTCAGTTTCCAGACACTGGCTCTCTGTACCTGAAGCATCGCAGCCTCACCTGCTTAGTGCCACAATCCCTCTGAGTTAAATGCCTTTCCCTTCCTCTGTCCATTAAGATCCTGATCATCCTTTTAATATCA...
GTCTGTGTTTTAAACAACTTTCTGTCTTCAGGTTAGGGCACAGTGCTTGGCACATAGAGTTGGCATACAAAATATGTTTGTTGAATAAGTCATATTACCCTTTTCCATAGGACTTTCTATTTCTCCTCATAGTGGCTACGCAAAGTTCAAATGTTGGCCCAGTGTTTTAGGGCTCCTGTATACCAGCCCGTCAGTTTCCAGACACTGGCTCTCTGTACCTGAAGCATCGCAGCCTCACCTGCTTAGTGCCACAATCCCTCTGAGTTAAATGCCTTTCCCTTCCTCTGTCCATTAAGATCCTGATCATCCTTTTAATATCA...
Task1_train_33798
This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Benign
GCAGTACAATTTTGAGAAATAGGTTAACTCTATTTTAACTTAAAAGTACCCTAAAAATTATTTAATTGTTTATTAGTGAGTAACAGGCTCAAATACAGCAGTTTTTTTTTTCTTTTAGTATTGCTTTGCATCCTCTAGGCTTGAATGGTATAAACACTGTGTTTTGACTTCTTATTCAATTTTAGATTACCAAAGAAGATTTTGCCACATTTGATTATATACTATGTATGGATGAAAGCAATCTGAGGTAATCCTGTTTTTGAAGAATATTTCTGTTCAACTCTCAGTTCAGCAGTGGGCCAAGTAATTTGTTGTCCAGA...
GCAGTACAATTTTGAGAAATAGGTTAACTCTATTTTAACTTAAAAGTACCCTAAAAATTATTTAATTGTTTATTAGTGAGTAACAGGCTCAAATACAGCAGTTTTTTTTTTCTTTTAGTATTGCTTTGCATCCTCTAGGCTTGAATGGTATAAACACTGTGTTTTGACTTCTTATTCAATTTTAGATTACCAAAGAAGATTTTGCCACATTTGATTATATACTATGTATGGATGAAAGCAATCTGAGGTAATCCTGTTTTTGAAGAATATTTCTGTTCAACTCTCAGTTCAGCAGTGGGCCAAGTAATTTGTTGTCCAGA...
Task1_train_33799
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
TGTGTCACCGTGCTTGGAAAAACCCAGTGCGTTTGGGAGTTGTGAGACTCTTCCCCTCACTTTTTTGTTCCTAAAAATCACGACAGCAAGTGCAGCATTGAGGAACATGACGGATCTGAAATGAATCTGGTGTGAATCCAACGCAGTCATTTTCATGTTGTGCTCACCTCTGATTCCACAGGGCCTGATTATTCACTAGTTTTAAAACCCTTTTCATTATTTAGAAATGACAGAGTGGATTAAAGAAAAAACTGTGAGAGGGACAATTATAGGAACAGCATGAAAGTTTTAATGAACAGTTTCCAAATCAGCACCTGGAA...
TGTGTCACCGTGCTTGGAAAAACCCAGTGCGTTTGGGAGTTGTGAGACTCTTCCCCTCACTTTTTTGTTCCTAAAAATCACGACAGCAAGTGCAGCATTGAGGAACATGACGGATCTGAAATGAATCTGGTGTGAATCCAACGCAGTCATTTTCATGTTGTGCTCACCTCTGATTCCACAGGGCCTGATTATTCACTAGTTTTAAAACCCTTTTCATTATTTAGAAATGACAGAGTGGATTAAAGAAAAAACTGTGAGAGGGACAATTATAGGAACAGCATGAAAGTTTTAATGAACAGTTTCCAAATCAGCACCTGGAA...