ID
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Task1_train_34100
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
AAGAAGAAAAGCAAACACCGGAATTTAAAGCAAAAAGGGATAGACTAACTCTACTGTTTTGTCCAAATACAGTTGGGTTTATATGATCAGGACTGCCCTTATCTGTAAAGCTGGTAACCCCTGATCCTTGAAGGGGAAAGGTAAACACCAGCTGCCAGTCTTTTGGTTGTACAACAAGATACGCATCCATTGATGCTTTATCCCAAAGTCAGGAAGTACCTTGCCAATAAGGACTGCCTTTTAAAGTTCTTTTGAGGCCAGGCATGGTGGCTCTTGCCTATCATCCCACACTTTGGGATGCTGAGTAGGAGGAGGGCTTG...
AAGAAGAAAAGCAAACACCGGAATTTAAAGCAAAAAGGGATAGACTAACTCTACTGTTTTGTCCAAATACAGTTGGGTTTATATGATCAGGACTGCCCTTATCTGTAAAGCTGGTAACCCCTGATCCTTGAAGGGGAAAGGTAAACACCAGCTGCCAGTCTTTTGGTTGTACAACAAGATACGCATCCATTGATGCTTTATCCCAAAGTCAGGAAGTACCTTGCCAATAAGGACTGCCTTTTAAAGTTCTTTTGAGGCCAGGCATGGTGGCTCTTGCCTATCATCCCACACTTTGGGATGCTGAGTAGGAGGAGGGCTTG...
Task1_train_34101
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
ACTGGAAAAACGTCAACCTGGTGGAAGCTGAACCAGAAGAAGGTACTCCTAATGAGGACAGAAACACCAATGATAACACAATGGCGAAAGTCCCAGTAAGAGATGGGTATAAATCAGGGGTTCGAAAAGTGTGGTCCCAGACCATCAGCATCACCTGACAACGTGGTAGAAATGCAAATTTTCAGGACCACCATAGCCCTACTGAATCCAAAATTATGTTTTAACAATCTGCTTCAGCAAGCCCTCTGGGGGTTCTGATGCCCAGAACTAGTCATCTAAACCAACCATTGGCAAACTCTAGCCTGTCAGCAGTGTCTTTT...
ACTGGAAAAACGTCAACCTGGTGGAAGCTGAACCAGAAGAAGGTACTCCTAATGAGGACAGAAACACCAATGATAACACAATGGCGAAAGTCCCAGTAAGAGATGGGTATAAATCAGGGGTTCGAAAAGTGTGGTCCCAGACCATCAGCATCACCTGACAACGTGGTAGAAATGCAAATTTTCAGGACCACCATAGCCCTACTGAATCCAAAATTATGTTTTAACAATCTGCTTCAGCAAGCCCTCTGGGGGTTCTGATGCCCAGAACTAGTCATCTAAACCAACCATTGGCAAACTCTAGCCTGTCAGCAGTGTCTTTT...
Task1_train_34102
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
ACCAGGAACCGGGCAAAGCAGTAAAGTGGAACGTCACTGCTGCCCACCAAGCCCTCATTTGTTAGCCCCCATTTCTTCAGTGGCTGCCCCAAACACTCCCTTCTGTCTCTCAGCTGCCCTCTTGTCCACAGGCCAGTCAAAGAGAACTGCCTGAAGTTTCCAGAATCTCATGATTTTGTGTCTCCATGCCTGCAAACCCTATTTGCTTGGCAAACACCTACTCATCCTTCAGGATGAAGTTCAAGAGCCATCTTCTCACAAAGCATCTTTTGATCTTTTCCCCACAGATCTCTTCCCTCCCCCTAGAAGATTCCTTTTCC...
ACCAGGAACCGGGCAAAGCAGTAAAGTGGAACGTCACTGCTGCCCACCAAGCCCTCATTTGTTAGCCCCCATTTCTTCAGTGGCTGCCCCAAACACTCCCTTCTGTCTCTCAGCTGCCCTCTTGTCCACAGGCCAGTCAAAGAGAACTGCCTGAAGTTTCCAGAATCTCATGATTTTGTGTCTCCATGCCTGCAAACCCTATTTGCTTGGCAAACACCTACTCATCCTTCAGGATGAAGTTCAAGAGCCATCTTCTCACAAAGCATCTTTTGATCTTTTCCCCACAGATCTCTTCCCTCCCCCTAGAAGATTCCTTTTCC...
Task1_train_34103
This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
TTAACTCAGTGCCTTCCAGCTCAACTTCCTTTTGTTAACAGCCTCATCCTCTTGCTATTTCCTGGTTCAAATTCTTTCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACAT...
TTAACTCAGTGCCTTCCAGCTCAACTTCCTTTTGTTAACAGCCTCATCCTCTTGCTATTTCCTGGTTCAAATTCTTTCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACAT...
Task1_train_34104
Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
TCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACATGGGGTCACCCTCAGGAGCAGAGTGAACCAGCCAGGGCTGTGGGAGGCAGGCCTTGTAGTAATAAAAGGATGAGATG...
TCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACATGGGGTCACCCTCAGGAGCAGAGTGAACCAGCCAGGGCTGTGGGAGGCAGGCCTTGTAGTAATAAAAGGATGAGATG...
Task1_train_34105
This variant is found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
TGTCACAGCAGCACGTGGTATTTCAGGTCTTACAATACAAGCCTGTGCCCTCAGCTGTGACCCATTTGCACCCAGAACAACACACTGCTGGTTACAGTTATTTAAGGAAGCATCTTTTCCTGAGGACCTTAATGAAGACCTGTGCTCACTCCACCCTCCTCTCCTCTCTGTGGTGGCTGCTGCCTGGATTCCAGCTTCAGCCACTGGACTTGGGATTTGGAACTGATGCCTGTGGAACTGGGTCTCTGTGAAGAGTGGGGAACCTGCTGAGACTTGTTCTTGGGAATTGAGCTATAGACTAGAAGATTGTGCAGTAAACA...
TGTCACAGCAGCACGTGGTATTTCAGGTCTTACAATACAAGCCTGTGCCCTCAGCTGTGACCCATTTGCACCCAGAACAACACACTGCTGGTTACAGTTATTTAAGGAAGCATCTTTTCCTGAGGACCTTAATGAAGACCTGTGCTCACTCCACCCTCCTCTCCTCTCTGTGGTGGCTGCTGCCTGGATTCCAGCTTCAGCCACTGGACTTGGGATTTGGAACTGATGCCTGTGGAACTGGGTCTCTGTGAAGAGTGGGGAACCTGCTGAGACTTGTTCTTGGGAATTGAGCTATAGACTAGAAGATTGTGCAGTAAACA...
Task1_train_34106
This genomic variant is located on Chromosome 2. Can you determine its pathogenicity and name any linked disease?
Benign
CATCCCTGCTTTAGTCAGGCCAATCCAGTAGATGAGTCCCCCCGCTGTTTTATACAGAAACTCCTGTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGA...
CATCCCTGCTTTAGTCAGGCCAATCCAGTAGATGAGTCCCCCCGCTGTTTTATACAGAAACTCCTGTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGA...
Task1_train_34107
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
GTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGAAGGCCTCAGCTGAACTCCAGAGCACGGACCGCAAGAGAATGGTTCATATGATAATACCTGAATTA...
GTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGAAGGCCTCAGCTGAACTCCAGAGCACGGACCGCAAGAGAATGGTTCATATGATAATACCTGAATTA...
Task1_train_34108
This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Benign
CAGCCCCTAAGTCCTCCCCAACCTCAAGCCCTCTCTCCTTAACTTCCTAGCCCATGGCTGCCCCTCTTTTGCCCCCACTCTCCTCCCCAACCCACCAGCCCAATGGCCTCAGGTCTGGGACAGGTAAGATCCCATGGGCCACTGGTCAGCTTCAATGTAATTTTCTGAGTCACTTACTTTGTCGTTTGAGCAACTTGCTCATATTCTCCAAGCTGCCCTGGAGTGCCCGGATCTTTGTATTTAAAGCACTGGCTTTCTCCAAATCACTTTTTAACTCTGGGATTTGGGCATTTAAGGTACTGACTTCTTCCCAACTTCTT...
CAGCCCCTAAGTCCTCCCCAACCTCAAGCCCTCTCTCCTTAACTTCCTAGCCCATGGCTGCCCCTCTTTTGCCCCCACTCTCCTCCCCAACCCACCAGCCCAATGGCCTCAGGTCTGGGACAGGTAAGATCCCATGGGCCACTGGTCAGCTTCAATGTAATTTTCTGAGTCACTTACTTTGTCGTTTGAGCAACTTGCTCATATTCTCCAAGCTGCCCTGGAGTGCCCGGATCTTTGTATTTAAAGCACTGGCTTTCTCCAAATCACTTTTTAACTCTGGGATTTGGGCATTTAAGGTACTGACTTCTTCCCAACTTCTT...
Task1_train_34109
A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation?
Benign
TGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGATAGGACAGAGAAGTTCCTTCCATTGGCAGGAACTCAATAGTATGAGACAGATAGGCTTCATCT...
TGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGATAGGACAGAGAAGTTCCTTCCATTGGCAGGAACTCAATAGTATGAGACAGATAGGCTTCATCT...
Task1_train_34110
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GAGGTGGGTGGGGGTGGGGGCGGGGACAGGGGGAGGGAGAGAGAGAGAGAGAGAGAGGACAGCTTACGCCATTATTTCTGTGTATCAGAGACTTTTAGTACTTTCACTAATTTTGCTACTGCTATCTAGAAGGCAGAGCCAGATGTACAGGATGGAACATGAAAGTGAAACAGGAGTGTGACCGCTGAAGTACAGCGTCACAGGGAGATGTTTAGGCCTCCAGATAACTGTGGGCGGGCCTGACTGATGTCAAGCCCTCCACAAAAGGTGGTGGAGTAAAGTCTTCTCTAAACTCCCCCTGGGAAAGGGAGACTCCCTTT...
GAGGTGGGTGGGGGTGGGGGCGGGGACAGGGGGAGGGAGAGAGAGAGAGAGAGAGAGGACAGCTTACGCCATTATTTCTGTGTATCAGAGACTTTTAGTACTTTCACTAATTTTGCTACTGCTATCTAGAAGGCAGAGCCAGATGTACAGGATGGAACATGAAAGTGAAACAGGAGTGTGACCGCTGAAGTACAGCGTCACAGGGAGATGTTTAGGCCTCCAGATAACTGTGGGCGGGCCTGACTGATGTCAAGCCCTCCACAAAAGGTGGTGGAGTAAAGTCTTCTCTAAACTCCCCCTGGGAAAGGGAGACTCCCTTT...
Task1_train_34111
A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CCCCTCCTAGTGTACTGCCTCTTTCAGGATGAGAACCTTCAATGAGACCAAGGCACTGCCTGTAACTGGGGCTCACACTCTGGTTAAAAAGATCCACCCTTCCTTCCAGCAGGCACTGGGCATTCACTCTGTGCTAGGAACCTGCTAGACCCTGAGGTCTAAAGATGAACAATATGTGGTCCCCACGCTCAAGGAGCTTAGAGTCTAGCAGAGGAGGCAGGTTACAGGCCCATCAAGGAGGAGAGGGTCCAGGAGGGTGTCAGGAGGCATGATGCTTAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGG...
CCCCTCCTAGTGTACTGCCTCTTTCAGGATGAGAACCTTCAATGAGACCAAGGCACTGCCTGTAACTGGGGCTCACACTCTGGTTAAAAAGATCCACCCTTCCTTCCAGCAGGCACTGGGCATTCACTCTGTGCTAGGAACCTGCTAGACCCTGAGGTCTAAAGATGAACAATATGTGGTCCCCACGCTCAAGGAGCTTAGAGTCTAGCAGAGGAGGCAGGTTACAGGCCCATCAAGGAGGAGAGGGTCCAGGAGGGTGTCAGGAGGCATGATGCTTAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGG...
Task1_train_34112
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
TAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGGAGGGAAGGGCTAACCAGGCATAAAGAGCAGCCGCATGGAAAGGCATAGAGGCACCTGGGAACATGATGTATGCAGAGAATGAAAACTCAGAGCAGCTGGGGATCAGATGTAAGTTGGAGGCTGACAAGATTTGGCAGGAGCCCACATCAGTGAAGGACCTTGGCTGGGGAAGAAAGGGGATTTTAAGCAGGTGTAATTACATAGGGTGCAAAACCCAGAAAACTCAGAAGATACTGGGAATCTTAAGTGAATCCTGAAATGGGGAGGGCTTTGGGG...
TAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGGAGGGAAGGGCTAACCAGGCATAAAGAGCAGCCGCATGGAAAGGCATAGAGGCACCTGGGAACATGATGTATGCAGAGAATGAAAACTCAGAGCAGCTGGGGATCAGATGTAAGTTGGAGGCTGACAAGATTTGGCAGGAGCCCACATCAGTGAAGGACCTTGGCTGGGGAAGAAAGGGGATTTTAAGCAGGTGTAATTACATAGGGTGCAAAACCCAGAAAACTCAGAAGATACTGGGAATCTTAAGTGAATCCTGAAATGGGGAGGGCTTTGGGG...
Task1_train_34113
A variant affecting Chromosome 2 has been observed. Determine if it's benign or associated with disease.
Benign
ATTTTTAGTAGAGACACGGTTTTGCCATTTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCGAGCAATCTGCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGTATTAGTCCATTTTCACGCTATTGATAAAGACATACCCGAGACTGGGCAATTTACAAAAGAAACAGGTTTAATGATTTACAGTTCCACGTGGCTGGGGAGGCCTCACACTCATGGCAGAAGGCAAGGAGGAGCAAGTCACATCTTACATGGATGGCAGCAGGCAAAGAGAGACAGATTGGGCAGGGAAAATCCCCCTTATAAAACTGTCAG...
ATTTTTAGTAGAGACACGGTTTTGCCATTTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCGAGCAATCTGCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGTATTAGTCCATTTTCACGCTATTGATAAAGACATACCCGAGACTGGGCAATTTACAAAAGAAACAGGTTTAATGATTTACAGTTCCACGTGGCTGGGGAGGCCTCACACTCATGGCAGAAGGCAAGGAGGAGCAAGTCACATCTTACATGGATGGCAGCAGGCAAAGAGAGACAGATTGGGCAGGGAAAATCCCCCTTATAAAACTGTCAG...
Task1_train_34114
Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
AATCACTCTAACCTCAATTGTTAACACCTAGAAGCTTCCCTTGGGCTTCTTACGCCCCCATCCCTCTACACACAGACTGTTGGTTTCTCCTTCCTCCTATGTGCTCTCAAAGCACTTAGCGCTTAGCATACTTTATTGAAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGC...
AATCACTCTAACCTCAATTGTTAACACCTAGAAGCTTCCCTTGGGCTTCTTACGCCCCCATCCCTCTACACACAGACTGTTGGTTTCTCCTTCCTCCTATGTGCTCTCAAAGCACTTAGCGCTTAGCATACTTTATTGAAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGC...
Task1_train_34115
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
AAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGCTCACAGCAACTACAGACTGAGCTTAGTTTGAATTCCGTAGCACACAACTGGGATATCCACACTGTACAACTTTTAACGATTTTTAAAATTTTGGTACTGTCAAGCATCTCAAATTCACTGCGTCCAAAATAGAGCTGT...
AAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGCTCACAGCAACTACAGACTGAGCTTAGTTTGAATTCCGTAGCACACAACTGGGATATCCACACTGTACAACTTTTAACGATTTTTAAAATTTTGGTACTGTCAAGCATCTCAAATTCACTGCGTCCAAAATAGAGCTGT...
Task1_train_34116
Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
GTTTCTACCCACCTATACTCTGCCATCCCCTGAAGTCCTTTTCCCATGCTACACCTGTCAAGCGCGTCTGTGTGAAGAGACCACTAAAACAGGCTTTGTGTGAGCCACAAGGCTGTTTATTCACTTGGGTGCAAGTGGGCTGAGTCCGAAAAGAGAGTCAACTAATGGTGATGGGGAAGGGGTTGCTTTATAGGAGTTGGGTAGGTAATGGAAAATTACAGTAAAAGGTGGTTATCTATTAGCAGAGGAGGACGGGGTCACAAGGTACATGGTGGGGAGATCATAAGACTTATTGTCCAGAAGAAGAATGTCACAAGGTC...
GTTTCTACCCACCTATACTCTGCCATCCCCTGAAGTCCTTTTCCCATGCTACACCTGTCAAGCGCGTCTGTGTGAAGAGACCACTAAAACAGGCTTTGTGTGAGCCACAAGGCTGTTTATTCACTTGGGTGCAAGTGGGCTGAGTCCGAAAAGAGAGTCAACTAATGGTGATGGGGAAGGGGTTGCTTTATAGGAGTTGGGTAGGTAATGGAAAATTACAGTAAAAGGTGGTTATCTATTAGCAGAGGAGGACGGGGTCACAAGGTACATGGTGGGGAGATCATAAGACTTATTGTCCAGAAGAAGAATGTCACAAGGTC...
Task1_train_34117
Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
CCATATCTAACATTTTAAATAGTCTCCATTAGGTTTGCTGACTTTCAAGCAAGTGAAAAAAAGATAATCTCCATAAAGTATTTTATATATTATACTTTAAGTTAATAGGTTCACAGTTCACACATTTTGTGTTAGAGTCCCTTCTGGCTTCCCATTGAATGTATTATCTCTTTTCTAGCCTGTACCAGAGATTAAAGTTGTGTCAAATCTGCCAGCCATAACCATGGAGGAAGTAGCCCCAGTGAGTGTTAGTGATGCAGCTCTCCTGGCCCCAGAGGAGATCAAGGTAAGAAGCCAATGTTGAAACCTTAAATGTCTGT...
CCATATCTAACATTTTAAATAGTCTCCATTAGGTTTGCTGACTTTCAAGCAAGTGAAAAAAAGATAATCTCCATAAAGTATTTTATATATTATACTTTAAGTTAATAGGTTCACAGTTCACACATTTTGTGTTAGAGTCCCTTCTGGCTTCCCATTGAATGTATTATCTCTTTTCTAGCCTGTACCAGAGATTAAAGTTGTGTCAAATCTGCCAGCCATAACCATGGAGGAAGTAGCCCCAGTGAGTGTTAGTGATGCAGCTCTCCTGGCCCCAGAGGAGATCAAGGTAAGAAGCCAATGTTGAAACCTTAAATGTCTGT...
Task1_train_34118
This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
TTTAAGACCAGCCTAGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTTGCCAGGGATGGTGACACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAAGACAATGGTTTGAGCCTGGACTGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCCGCCTGGGTTACAGAGTGAGACTCCACCTCCACAAACAAACAAACAAAAAACAACAAAAAAACCCAAAATTATGTTGCCAAGCTAGTATTACCTGTAAAACATTAGGGTTGGGGGAATTTGAGCAAACAATTGTTTATCTGCTCA...
TTTAAGACCAGCCTAGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTTGCCAGGGATGGTGACACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAAGACAATGGTTTGAGCCTGGACTGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCCGCCTGGGTTACAGAGTGAGACTCCACCTCCACAAACAAACAAACAAAAAACAACAAAAAAACCCAAAATTATGTTGCCAAGCTAGTATTACCTGTAAAACATTAGGGTTGGGGGAATTTGAGCAAACAATTGTTTATCTGCTCA...
Task1_train_34119
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
AACTGCAAACCAATGCTCAAAGAAATCAGAGAGGACACAAACAAATGGAGAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAAAGGCCATACTGCCCTACTCCCATTAAACTACCATTGACATTCTTCACAGAATTAGAAAAACTATTTAACATTCATACAGAACCAAAAGAGCCCAAATAGCCAAGACAATCCTAAGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGAGGCATCACATTAGCTGACTTCAAACTGTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACAAGAACAG...
AACTGCAAACCAATGCTCAAAGAAATCAGAGAGGACACAAACAAATGGAGAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAAAGGCCATACTGCCCTACTCCCATTAAACTACCATTGACATTCTTCACAGAATTAGAAAAACTATTTAACATTCATACAGAACCAAAAGAGCCCAAATAGCCAAGACAATCCTAAGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGAGGCATCACATTAGCTGACTTCAAACTGTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACAAGAACAG...
Task1_train_34120
This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
AAGTACTTCCTCAAGGAATGCTGAACAGTCCTACCATGTGTCAGCATCATGTAAATCAGGCTTTGCTCCCCAGTAGAAAAAAATTTCCTAATTGCAAGATTATTCATTTTGTAGATGATATTTTACTAGCAGACCCAACAGAGCCAATACTTTTGAGTTTATATGCCTCTGTCGTTAAGATGTTAATCATAGCACCTGAAAAAGTACAGATGTCCTCACCTTGGAAATATCTTAGGTACATACTAACTTCCTGGTCAGTAAGACCTCAAAAGGTTAAATTAAATACTAGCAACTTACATACCTTAAATGATTATCAAAAA...
AAGTACTTCCTCAAGGAATGCTGAACAGTCCTACCATGTGTCAGCATCATGTAAATCAGGCTTTGCTCCCCAGTAGAAAAAAATTTCCTAATTGCAAGATTATTCATTTTGTAGATGATATTTTACTAGCAGACCCAACAGAGCCAATACTTTTGAGTTTATATGCCTCTGTCGTTAAGATGTTAATCATAGCACCTGAAAAAGTACAGATGTCCTCACCTTGGAAATATCTTAGGTACATACTAACTTCCTGGTCAGTAAGACCTCAAAAGGTTAAATTAAATACTAGCAACTTACATACCTTAAATGATTATCAAAAA...
Task1_train_34121
This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CAGGTTTTAAAAATTTGTTTTGAAGGAAACAGAAGAAATGTGTGTGATGCTTGTCTCTAATTTGCCTAATAAAGGATATTCTGTAGAAGAAGTTTATGACTTAGCAAAACCATTTGGTGGTTTAAAGGATATCTTGATTTTATCATCTCATAAAAAGGTAAGAGTTGATTAATAGCTGTTCATATCCTCTGCAAGCATGCATGCTTTGAAAAACATTAAATTTACAAAACTAAAAAGAAAAGGTTTAAAAGCAGTATCTCAAAGTAAACTTTCAAGCTAAGGGATTTTAAAATATAAAACACAGATATCCTGTATTTTAG...
CAGGTTTTAAAAATTTGTTTTGAAGGAAACAGAAGAAATGTGTGTGATGCTTGTCTCTAATTTGCCTAATAAAGGATATTCTGTAGAAGAAGTTTATGACTTAGCAAAACCATTTGGTGGTTTAAAGGATATCTTGATTTTATCATCTCATAAAAAGGTAAGAGTTGATTAATAGCTGTTCATATCCTCTGCAAGCATGCATGCTTTGAAAAACATTAAATTTACAAAACTAAAAAGAAAAGGTTTAAAAGCAGTATCTCAAAGTAAACTTTCAAGCTAAGGGATTTTAAAATATAAAACACAGATATCCTGTATTTTAG...
Task1_train_34122
Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
CATATTGACAGGAATAGGTTGTAGACACAGAAAAAAAATTTATATATGTGAAAGAGACTGACATTTGACTTGAGTCATCCTCATTTTGTTAAAACAGGTTATCCTTTTGGCTCTAATTTAACCTTAAGTGGATGGTCTCTAAGATTAACTTTACTGGTACCAAGTTCTGTTGTCAAACATATTTTATATTTGGTTGTTATTTTAGGTTTTTACCATTCATAGAATTTTTTTCAGTCATTTTACTTTTCTTACCTGGTAGGGGATAGATTTGGGCCTATGTTGTTGGGGCAAGGAGAAATGTTACTAGTTTTAAGCAGAAA...
CATATTGACAGGAATAGGTTGTAGACACAGAAAAAAAATTTATATATGTGAAAGAGACTGACATTTGACTTGAGTCATCCTCATTTTGTTAAAACAGGTTATCCTTTTGGCTCTAATTTAACCTTAAGTGGATGGTCTCTAAGATTAACTTTACTGGTACCAAGTTCTGTTGTCAAACATATTTTATATTTGGTTGTTATTTTAGGTTTTTACCATTCATAGAATTTTTTTCAGTCATTTTACTTTTCTTACCTGGTAGGGGATAGATTTGGGCCTATGTTGTTGGGGCAAGGAGAAATGTTACTAGTTTTAAGCAGAAA...
Task1_train_34123
This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Benign
TTAGAGGTCTCCTTCCTTTACTATTTCCTAACCAGATGTAAAATTAGCTTTCCCCCCCTTCTACATCACCTAACCCGTTTCTCATTGGATGTCCTTGCTTTCGTTTTTATTTGCCAGAGTAAATCTAGGATCTCCCTTGTCTGCCAACTTATATTTTGTTTTATACACATAAAATATAAAATTTGGCCAAGTTTTTCCCATTGAAAGAAATATCCCTTTGACCTTGAAATCTCTCTAGCTCCTATCTTTTCTACTTGCTTTTAGAGCAAAACGTCTAGAAAGAACCACCTACTTTTACGTCTTAATTTCCCATGGAACTG...
TTAGAGGTCTCCTTCCTTTACTATTTCCTAACCAGATGTAAAATTAGCTTTCCCCCCCTTCTACATCACCTAACCCGTTTCTCATTGGATGTCCTTGCTTTCGTTTTTATTTGCCAGAGTAAATCTAGGATCTCCCTTGTCTGCCAACTTATATTTTGTTTTATACACATAAAATATAAAATTTGGCCAAGTTTTTCCCATTGAAAGAAATATCCCTTTGACCTTGAAATCTCTCTAGCTCCTATCTTTTCTACTTGCTTTTAGAGCAAAACGTCTAGAAAGAACCACCTACTTTTACGTCTTAATTTCCCATGGAACTG...
Task1_train_34124
A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
AGAAGGCAGGAGGAGAAAGGAAGGAGTGGGAGGAAGAGGACCTACCTAAACAGGGCCCTGCACTCCTACATCAATCCTTGGCCACTTATGTCCTGCCACTGGTCTTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGGAGTGCAATGGCACATTGTGGCTCACTGCAAACTCCGCCTCCTGGGTTCAAGGGACTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTGCACCACCACAGCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCACGTTGG...
AGAAGGCAGGAGGAGAAAGGAAGGAGTGGGAGGAAGAGGACCTACCTAAACAGGGCCCTGCACTCCTACATCAATCCTTGGCCACTTATGTCCTGCCACTGGTCTTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGGAGTGCAATGGCACATTGTGGCTCACTGCAAACTCCGCCTCCTGGGTTCAAGGGACTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTGCACCACCACAGCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCACGTTGG...
Task1_train_34125
A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation?
Benign
CATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGCGCATGACCTCCTTGATGACGC...
CATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGCGCATGACCTCCTTGATGACGC...
Task1_train_34126
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
CCATCAGCTCCTCTCATCACAAGGAACAAGGAGGAGGTGACAAGAGTTCTTTCTCCCACTCAGGGGAGCCTTTGGCCTTCACCCACCAAGTCCCCAGTATCAGGGACCCCCAATTTGTCTGACTCCCAAATGAAGTCTCCTGCTGGGCTGCAGGACAAGCTGGGTGGCAGGTCAGCAGTCTCTTGGTGAGCCACCTGAATGTCTCACTTCTTGCTTTTGTGAAGACATAAGGATTTGGGAAAGAGATCTTGGGCATGAAATGGGACATCCCACTTCACAGCTATTTGGAGATGACTTGGTCTATGTGGGAGTGAAATAAA...
CCATCAGCTCCTCTCATCACAAGGAACAAGGAGGAGGTGACAAGAGTTCTTTCTCCCACTCAGGGGAGCCTTTGGCCTTCACCCACCAAGTCCCCAGTATCAGGGACCCCCAATTTGTCTGACTCCCAAATGAAGTCTCCTGCTGGGCTGCAGGACAAGCTGGGTGGCAGGTCAGCAGTCTCTTGGTGAGCCACCTGAATGTCTCACTTCTTGCTTTTGTGAAGACATAAGGATTTGGGAAAGAGATCTTGGGCATGAAATGGGACATCCCACTTCACAGCTATTTGGAGATGACTTGGTCTATGTGGGAGTGAAATAAA...
Task1_train_34127
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GCGAGACCCCGTCTCCATTTAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAATATACAAGACAAAGCTGGAGTCGCCCACAGTGGTGGCCTCTGCTCTTGCCAAGGCTTCCTTTCCTTCAGCCATAGAGCTCTTGGATCCCTTTGCTTGAGAACCCTGGGGGAGGCTATGCAGCACCTAGGGATCCGGTAGGACCCTGGGCTTAGAGGGAACAGGCCATGCTTCTAGTCGGTTGACCCACCTGTACGTGACAGCCTGCAGGGCACGGCAGTAGCAGCTGGCCAGCCAGAGCGAGCGGTCGGTGAGGATGTTTGGACAGTG...
GCGAGACCCCGTCTCCATTTAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAATATACAAGACAAAGCTGGAGTCGCCCACAGTGGTGGCCTCTGCTCTTGCCAAGGCTTCCTTTCCTTCAGCCATAGAGCTCTTGGATCCCTTTGCTTGAGAACCCTGGGGGAGGCTATGCAGCACCTAGGGATCCGGTAGGACCCTGGGCTTAGAGGGAACAGGCCATGCTTCTAGTCGGTTGACCCACCTGTACGTGACAGCCTGCAGGGCACGGCAGTAGCAGCTGGCCAGCCAGAGCGAGCGGTCGGTGAGGATGTTTGGACAGTG...
Task1_train_34128
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
GATAGAAGGCCCCATGAGAGCATTTCAGGGAAGCCAGGTTGGCATTACAGTGTTGTAAGGGTTGCAAGGACCAGACCTCAAGGGGCCAGATTCTACCCAGGGGGAAAGGTGGGTTCACAGCAGGGCACAGAAGGCAGGCAGGGGCAGGTACCTTGGAGCAGACACGGGCATTCTCAAGCAGCACCCTTGTCCAGACTGCGGGGTGGCGGGCCACGAAGCGCCAGTCCCGGCAGACCTCGGCAGCATGCAGCAGTGTGCGCGTGTCCAGGTAGGTGAAGATGCAGAAGAGGGCAGCTCGCATCTTCAGGATCTCTGGGCTG...
GATAGAAGGCCCCATGAGAGCATTTCAGGGAAGCCAGGTTGGCATTACAGTGTTGTAAGGGTTGCAAGGACCAGACCTCAAGGGGCCAGATTCTACCCAGGGGGAAAGGTGGGTTCACAGCAGGGCACAGAAGGCAGGCAGGGGCAGGTACCTTGGAGCAGACACGGGCATTCTCAAGCAGCACCCTTGTCCAGACTGCGGGGTGGCGGGCCACGAAGCGCCAGTCCCGGCAGACCTCGGCAGCATGCAGCAGTGTGCGCGTGTCCAGGTAGGTGAAGATGCAGAAGAGGGCAGCTCGCATCTTCAGGATCTCTGGGCTG...
Task1_train_34129
Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGC...
TTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGC...
Task1_train_34130
This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Benign
CACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAG...
CACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAG...
Task1_train_34131
This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Benign
GAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATC...
GAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATC...
Task1_train_34132
Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACT...
TCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACT...
Task1_train_34133
A change on Chromosome 2 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
CAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCA...
CAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCA...
Task1_train_34134
A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
GGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACC...
GGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACC...
Task1_train_34135
A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
AGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTA...
AGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTA...
Task1_train_34136
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTATGTCATCACCCAGGTA...
GCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTATGTCATCACCCAGGTA...
Task1_train_34137
A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
TGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTCTACTTTTTGCAACAAGCAGAATGTACACATGTTAAACAAGGGCATACAAGCAGGTAATTACTTGAATCTAAACTTTTTCATTGAAATACATTGAAATGGCTCTTAAACATGTAAGATACTCAACCTCAATCATAATAAAGGACATGAAGATAAAACTATATCCAACTGCCAATTTTCATCTTGTCAGATTGGCATAAATTCAAGTTTGATGGCA...
TGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTCTACTTTTTGCAACAAGCAGAATGTACACATGTTAAACAAGGGCATACAAGCAGGTAATTACTTGAATCTAAACTTTTTCATTGAAATACATTGAAATGGCTCTTAAACATGTAAGATACTCAACCTCAATCATAATAAAGGACATGAAGATAAAACTATATCCAACTGCCAATTTTCATCTTGTCAGATTGGCATAAATTCAAGTTTGATGGCA...
Task1_train_34138
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GCTTCCACCTAGATTTCAGAGGATGTATCAAAAAGTCTGGGTGCCCTGACAGAAGCCTGCCACAGGGGCAGAAACCCACAGAGAACCTCTACAAGGACAGAGCCATGGGAAAACATAGGGTTGGAACCCCATACAGAGTCCCCACTGGGACATTGCCTAGTGGAGCTGTGGGAATGGGGCCAATGCCCTCCAGACAGCAGAAAGGTAGAGTCACCAGCAGCTTGCAACCTCAGCGTGGAAGACCCACAGGCATTCAATCCCAACCTGTGAGAGCAGCCATGTGGGCTGCACCCAGCAAAGCCATAGAGACAGGGCTGCTC...
GCTTCCACCTAGATTTCAGAGGATGTATCAAAAAGTCTGGGTGCCCTGACAGAAGCCTGCCACAGGGGCAGAAACCCACAGAGAACCTCTACAAGGACAGAGCCATGGGAAAACATAGGGTTGGAACCCCATACAGAGTCCCCACTGGGACATTGCCTAGTGGAGCTGTGGGAATGGGGCCAATGCCCTCCAGACAGCAGAAAGGTAGAGTCACCAGCAGCTTGCAACCTCAGCGTGGAAGACCCACAGGCATTCAATCCCAACCTGTGAGAGCAGCCATGTGGGCTGCACCCAGCAAAGCCATAGAGACAGGGCTGCTC...
Task1_train_34139
Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Benign
CAGTCTACATTTGTAATTCTTGAATTCATGGCGCAGGCAACTATTACTCTATGTCTTTTAATGTAGTCATGTCCAAACATTTATATATTGAAATAAATATTATTTTATTATAAATTACTTTTATTTTATTTTTTATATTATAGTTAGGGTGTTAATTGGTATTTTTGTTTAAAATATGAAGTAGGTTGTATGTACCTATGAACTTCATTTCAGGATAGTAAAGGGGTCATTACAAAGTATTTGCTATAAAAAGAGAAAATGGAATGTGATAGAGTGGAGAGCAGTGTTCTGCATGGTGAACTCAGATGCCTGAAAGAATA...
CAGTCTACATTTGTAATTCTTGAATTCATGGCGCAGGCAACTATTACTCTATGTCTTTTAATGTAGTCATGTCCAAACATTTATATATTGAAATAAATATTATTTTATTATAAATTACTTTTATTTTATTTTTTATATTATAGTTAGGGTGTTAATTGGTATTTTTGTTTAAAATATGAAGTAGGTTGTATGTACCTATGAACTTCATTTCAGGATAGTAAAGGGGTCATTACAAAGTATTTGCTATAAAAAGAGAAAATGGAATGTGATAGAGTGGAGAGCAGTGTTCTGCATGGTGAACTCAGATGCCTGAAAGAATA...
Task1_train_34140
Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGG...
TTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGG...
Task1_train_34141
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
AAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGA...
AAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGA...
Task1_train_34142
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
AGGATGTGGGAAGGCTGCTCTGACCCCCAAGAGCTGATCCCAAGGCCTGGCAGAAACCTGAGGATGAGAGAGTATAGTGTGGTGGGGAAGCGGTAACCTGGGACTTATGTCACCCCCAGTGCCCCTTCCTTCTCACCTTGGTCCCAGCTCCAGATAAGCGACTGATGAAGTAGTCTGTGACACAAAGATGCCAGCTCCTTCTCACACTCCTGAGGCAGGGATGCTAGTGGGAGAAATGACTCTGGGGCCTGAAAACAAGGTCTCACTTTCCACAACCCCTGCCCACTCAATGATGAGGCAAGAAGGCATGCTTCCTCCAA...
AGGATGTGGGAAGGCTGCTCTGACCCCCAAGAGCTGATCCCAAGGCCTGGCAGAAACCTGAGGATGAGAGAGTATAGTGTGGTGGGGAAGCGGTAACCTGGGACTTATGTCACCCCCAGTGCCCCTTCCTTCTCACCTTGGTCCCAGCTCCAGATAAGCGACTGATGAAGTAGTCTGTGACACAAAGATGCCAGCTCCTTCTCACACTCCTGAGGCAGGGATGCTAGTGGGAGAAATGACTCTGGGGCCTGAAAACAAGGTCTCACTTTCCACAACCCCTGCCCACTCAATGATGAGGCAAGAAGGCATGCTTCCTCCAA...
Task1_train_34143
An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Benign
CATTTGCTAGGTTGTCATTGACTCATGCAATCCTTGATCCCTGGGGCAATCGCAGATTCCTCTTCTGTGACCACCTCCCAGCCCCACCTCAAGTCTGGCCCTGAGTTCTCTCTGCTGTTACCTTTTGCAGTGGCCAGATATATACTCCCTTTTTCAGGTCTCTACCAGTCTCTGATCCAACCTGCGCCCACAGCCAGATTGGCCTACCCTAAACAATGGTCTCTTGTCTCTCTTCTCTAAAACCTCCAGGGACCATGCTCTAAAGTACAATGCCTAAGTCCCTACCTGTGGCCCTTTCTCCTCCCCTTTCTCTGTAAATC...
CATTTGCTAGGTTGTCATTGACTCATGCAATCCTTGATCCCTGGGGCAATCGCAGATTCCTCTTCTGTGACCACCTCCCAGCCCCACCTCAAGTCTGGCCCTGAGTTCTCTCTGCTGTTACCTTTTGCAGTGGCCAGATATATACTCCCTTTTTCAGGTCTCTACCAGTCTCTGATCCAACCTGCGCCCACAGCCAGATTGGCCTACCCTAAACAATGGTCTCTTGTCTCTCTTCTCTAAAACCTCCAGGGACCATGCTCTAAAGTACAATGCCTAAGTCCCTACCTGTGGCCCTTTCTCCTCCCCTTTCTCTGTAAATC...
Task1_train_34144
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
TAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCC...
TAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCC...
Task1_train_34145
This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Benign
CCTCGTTTTTTTTTCAAGGCAGGATTCAGGACCAAAAGACCCTCAAGCCACTGCATAATAACGTTTAGTTCCAGTGGCCAGGATGGGGGCCCTACAGCTGGCAGTAGTTACTTGAGTAATGATGGTTAGGTCCAAGAGAATGTATACTGAATGCCTAGTGAGGTTAAAGATTAAGACTCAGCATTCTCCCCTGCTCCGAGAAGTCCAGTGGGGTTATGGTGTGTTCCTTCTCGAGTTGCTTCTTGAAATTTCGAAATAAGCCTTGGAAAGGAAATGAGTTCCTTTCCCTGTGGGTTCCTTTCCAAGGCTTATTTCCCCAG...
CCTCGTTTTTTTTTCAAGGCAGGATTCAGGACCAAAAGACCCTCAAGCCACTGCATAATAACGTTTAGTTCCAGTGGCCAGGATGGGGGCCCTACAGCTGGCAGTAGTTACTTGAGTAATGATGGTTAGGTCCAAGAGAATGTATACTGAATGCCTAGTGAGGTTAAAGATTAAGACTCAGCATTCTCCCCTGCTCCGAGAAGTCCAGTGGGGTTATGGTGTGTTCCTTCTCGAGTTGCTTCTTGAAATTTCGAAATAAGCCTTGGAAAGGAAATGAGTTCCTTTCCCTGTGGGTTCCTTTCCAAGGCTTATTTCCCCAG...
Task1_train_34146
A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
CAAGAAGAATATGAACAGACAGGCCTTGCTGGGTTTCCCCATTCAGTCTATTACCATTAGACTATTATCATTCCCTTTTTGTCCAATCCCATTTCTTTTTCTTTTTAAGACACAGGGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCATTGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAACTCTCCCACCTCAGCCTCCCAAGTAGCTAGGACTATAGGATCACAATACCCAGCTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAATGGGGTCTCCATCTGT...
CAAGAAGAATATGAACAGACAGGCCTTGCTGGGTTTCCCCATTCAGTCTATTACCATTAGACTATTATCATTCCCTTTTTGTCCAATCCCATTTCTTTTTCTTTTTAAGACACAGGGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCATTGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAACTCTCCCACCTCAGCCTCCCAAGTAGCTAGGACTATAGGATCACAATACCCAGCTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAATGGGGTCTCCATCTGT...
Task1_train_34147
A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TGCTGCAGTCAGTGCCCCACTCTTTGTCCCAAGTAGTTTGGTTCTTTCCTGGCTCCCCCAGTGTTTCCTGTGGTATCAGAATGGAGTAGTCTTCCTGTGAAGATTCCCAGATTAGTGGGGAGATTGAAAGTCTACCTGCAGCTCCCTACTCTCACCTCAGAAACTGGGTCTGGGGAAATTCTGTCGGTGGCATTATGCTGACTTGGGGTAGGGGTGGCGCAGTCTGAAATGACCATTTCTCCTATTTGTTGCAGCTTCTCTCAGTTCTGTGGGCCCAGGGGGCTCCTCCACTTCTCCCCCAAGTTTGGATGAATTCAGGG...
TGCTGCAGTCAGTGCCCCACTCTTTGTCCCAAGTAGTTTGGTTCTTTCCTGGCTCCCCCAGTGTTTCCTGTGGTATCAGAATGGAGTAGTCTTCCTGTGAAGATTCCCAGATTAGTGGGGAGATTGAAAGTCTACCTGCAGCTCCCTACTCTCACCTCAGAAACTGGGTCTGGGGAAATTCTGTCGGTGGCATTATGCTGACTTGGGGTAGGGGTGGCGCAGTCTGAAATGACCATTTCTCCTATTTGTTGCAGCTTCTCTCAGTTCTGTGGGCCCAGGGGGCTCCTCCACTTCTCCCCCAAGTTTGGATGAATTCAGGG...
Task1_train_34148
This variant is found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
AATTGGTTGAATCAAGATAAGGAAGGTTGAAAATCTGTATTCCTTGTTATATGAAAGTGAAGCAGCTGCTACCTAGTGTATTTTATGCCTCAGGCAATGTCCCCACCACCATAATTACAAGAACATTATGGACTTGGTCAAAAGGATATGGGAGTGAGAACTGAGACAGGCATCTGCCCTGGAGCCCTCCCAAACACCTCTGCTACTGCAGTCCCTGCCCAATAAGGCTCATAATCCCACCCCATAATCAGCTTTGATGCTCCCTGGTGATGGAAATCAGCTCCCGATTGTTCCATTTTTCTAAGAGGTGGAGACAAGGA...
AATTGGTTGAATCAAGATAAGGAAGGTTGAAAATCTGTATTCCTTGTTATATGAAAGTGAAGCAGCTGCTACCTAGTGTATTTTATGCCTCAGGCAATGTCCCCACCACCATAATTACAAGAACATTATGGACTTGGTCAAAAGGATATGGGAGTGAGAACTGAGACAGGCATCTGCCCTGGAGCCCTCCCAAACACCTCTGCTACTGCAGTCCCTGCCCAATAAGGCTCATAATCCCACCCCATAATCAGCTTTGATGCTCCCTGGTGATGGAAATCAGCTCCCGATTGTTCCATTTTTCTAAGAGGTGGAGACAAGGA...
Task1_train_34149
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
AAGTATTTAACAAATGGTAAAGCATAATGATTTACATTTAGGTTATAACTAAACAATACTATATGGAAAGCAAATGCAGGATTATATATCTGCTTCTTTGTAGCTTTTAACTACTAATCTTGGTTCTATGCTGCATAACAGCACAGAATAAATCTATACCTTCTTTGAATACAAACAGCATCTCTCTGTACATCTTTCAAATTAAATATCTCTAATTCCTGCAACAGTTTCCATCTATTTTACTTGAGTTTTTATCCTATTGGAGGTAAGCAGAAAATGCCTCTCTCTCTGTTGCCACATGTTGAAATCCTATTCTTTCC...
AAGTATTTAACAAATGGTAAAGCATAATGATTTACATTTAGGTTATAACTAAACAATACTATATGGAAAGCAAATGCAGGATTATATATCTGCTTCTTTGTAGCTTTTAACTACTAATCTTGGTTCTATGCTGCATAACAGCACAGAATAAATCTATACCTTCTTTGAATACAAACAGCATCTCTCTGTACATCTTTCAAATTAAATATCTCTAATTCCTGCAACAGTTTCCATCTATTTTACTTGAGTTTTTATCCTATTGGAGGTAAGCAGAAAATGCCTCTCTCTCTGTTGCCACATGTTGAAATCCTATTCTTTCC...
Task1_train_34150
A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
ACCTTTTCATTAAGGCAGTCAATTAAATTTTCCACATAAATTTTCATGCTTTTATAGAATTTACAATTTAGAGCTTGATTTGATGAACTCTCTAGGTTCTGGATGGTACTCTTTGAGCTTTTGACATCTTGTACGTATTTTTCATACTCCCTCAGGTGTGAGCGGTGAGTTTCCTGTAGTAATGTTAATCTAAATAAATAAAATAAAAATTAGTTTATTTTTCATACTCTTTTAAAAGTAGCAATCTAATGTAAATATTTTCAAAGACCACCAAGGAAACTGACAATCATATAAATCTGGGTTTATAGACTAGATAAGCA...
ACCTTTTCATTAAGGCAGTCAATTAAATTTTCCACATAAATTTTCATGCTTTTATAGAATTTACAATTTAGAGCTTGATTTGATGAACTCTCTAGGTTCTGGATGGTACTCTTTGAGCTTTTGACATCTTGTACGTATTTTTCATACTCCCTCAGGTGTGAGCGGTGAGTTTCCTGTAGTAATGTTAATCTAAATAAATAAAATAAAAATTAGTTTATTTTTCATACTCTTTTAAAAGTAGCAATCTAATGTAAATATTTTCAAAGACCACCAAGGAAACTGACAATCATATAAATCTGGGTTTATAGACTAGATAAGCA...
Task1_train_34151
A variant has been detected on Chromosome 2. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
CAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAA...
CAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAA...
Task1_train_34152
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
TTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAAATACTTCAACCAAAACAAAATAGCACAAGAGATTAAAAGCAGAAACACCTATGACAATTCATCTGTCTTCTATTAATATTTTGCCAG...
TTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAAATACTTCAACCAAAACAAAATAGCACAAGAGATTAAAAGCAGAAACACCTATGACAATTCATCTGTCTTCTATTAATATTTTGCCAG...
Task1_train_34153
Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Benign
AGGAGCCCTCCGTCCAATGCACACAGCCTTCCCCTTCCCTTCTCTGCACCCACCAACTGCCACTACCACCACCTCCTCACTCTTTAGTTCAATAGAAACTGAAATCTCAATGATGGACCTGGAAACCTATGAGGGGTGAGAAGGAGCAATCATCACTCTCAACACAGAAAAAAAAAAAAGGGAAAGCAAGCATTACACAAAAGGGCCATCTGAGAAGAGGCAGCTTTTCTGTCCTGGGTTAACAAATTATTCCCATCTCAGAAATATGCAAACACAGGATCAAATGAGTATCTTCTCCCACTCTCCCCACCCCATCACTG...
AGGAGCCCTCCGTCCAATGCACACAGCCTTCCCCTTCCCTTCTCTGCACCCACCAACTGCCACTACCACCACCTCCTCACTCTTTAGTTCAATAGAAACTGAAATCTCAATGATGGACCTGGAAACCTATGAGGGGTGAGAAGGAGCAATCATCACTCTCAACACAGAAAAAAAAAAAAGGGAAAGCAAGCATTACACAAAAGGGCCATCTGAGAAGAGGCAGCTTTTCTGTCCTGGGTTAACAAATTATTCCCATCTCAGAAATATGCAAACACAGGATCAAATGAGTATCTTCTCCCACTCTCCCCACCCCATCACTG...
Task1_train_34154
A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
ATATGGTCTACACTAATACCAAAGGGGGCATCATTACTTCCCAGTGAGGATGAAAGTACATCCCTATTTGGCCTTCTCTGACACCGTGGGAGAATGAGAAGAGGAATTTCAGGAGACTTGTTACACCCTAGCTAGAGTGGAAGTCTGGGCTCCGCACTCAGTGTCTGCTGGTGAGGGTAGGAATAAATACCTCAGGATTTTTCTGTGGTGTTTGGTTAGAGTAGAGCAGTTATTGCCTAAAAGTTTTCTGTCTTGCTGGGCTGCCCCTTTCCTGGGCTGCCCCTTTCCTGGTCCTTTGGATAAAGACAGTAAGCTTTTCC...
ATATGGTCTACACTAATACCAAAGGGGGCATCATTACTTCCCAGTGAGGATGAAAGTACATCCCTATTTGGCCTTCTCTGACACCGTGGGAGAATGAGAAGAGGAATTTCAGGAGACTTGTTACACCCTAGCTAGAGTGGAAGTCTGGGCTCCGCACTCAGTGTCTGCTGGTGAGGGTAGGAATAAATACCTCAGGATTTTTCTGTGGTGTTTGGTTAGAGTAGAGCAGTTATTGCCTAAAAGTTTTCTGTCTTGCTGGGCTGCCCCTTTCCTGGGCTGCCCCTTTCCTGGTCCTTTGGATAAAGACAGTAAGCTTTTCC...
Task1_train_34155
With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
CACACAGGATGTAACAATCATATCGGCATGTGCACCTCCAGGCGGTGGCCGCAACCCTGTGACTCCCCGCTTCATCAGACACTTCAGCATGCTGTGCCTCCCAATGCCCTCAGAGCACAGTCTGAAACAGATTTTTCAGGTGAGTGTCGATTTTAACTTAGGCAACAGGAGGAAAAGAAAGCATATTTGTTCCAAGGCTCCCACAATCAAAGTGGTGTCTTGTGTTTCTAAGGAGTCCATCTATCCGTCTCTTTCCTGAGCAGGAAGCAGGTAAATATGGACTCCTGGAGAGTAGCTGGCAGGCATTTGCATCACTGCCT...
CACACAGGATGTAACAATCATATCGGCATGTGCACCTCCAGGCGGTGGCCGCAACCCTGTGACTCCCCGCTTCATCAGACACTTCAGCATGCTGTGCCTCCCAATGCCCTCAGAGCACAGTCTGAAACAGATTTTTCAGGTGAGTGTCGATTTTAACTTAGGCAACAGGAGGAAAAGAAAGCATATTTGTTCCAAGGCTCCCACAATCAAAGTGGTGTCTTGTGTTTCTAAGGAGTCCATCTATCCGTCTCTTTCCTGAGCAGGAAGCAGGTAAATATGGACTCCTGGAGAGTAGCTGGCAGGCATTTGCATCACTGCCT...
Task1_train_34156
An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Benign
AGCATCCACATTTTAATGTATATCTAGACATGTATGCCCTGTGTACAAAGAGAAAACATTTGAATCTTGGGATTGTGAGTGATTTTTATTGTCTAGTTGCTTATCTGTAGTTTCTGATTATCCTAAAATTAAGATATTTCTGATAGTGCTTTTAACATTGCTTTTAAAAATCAAACAAGTTATGTAAAAAGTCTCCAAGTATTAAAGCTCCAAAGATCAAGTCATATTGTGTTGCTTCTCTTTAGACAAAAAGTTACTACATTCTGTTGGAAGCCCCAATCAATCTCAAATGTTCTACAATAATGAAGAGTAAACGTAAC...
AGCATCCACATTTTAATGTATATCTAGACATGTATGCCCTGTGTACAAAGAGAAAACATTTGAATCTTGGGATTGTGAGTGATTTTTATTGTCTAGTTGCTTATCTGTAGTTTCTGATTATCCTAAAATTAAGATATTTCTGATAGTGCTTTTAACATTGCTTTTAAAAATCAAACAAGTTATGTAAAAAGTCTCCAAGTATTAAAGCTCCAAAGATCAAGTCATATTGTGTTGCTTCTCTTTAGACAAAAAGTTACTACATTCTGTTGGAAGCCCCAATCAATCTCAAATGTTCTACAATAATGAAGAGTAAACGTAAC...
Task1_train_34157
A change on Chromosome 2 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GGCTGAGGAGACAGTCAAAGGAATAGAGAGGCCTGGCTTTGAGGGCCTCTTCACCACCAGCACAAGATAAGGCAAAGGACCATTTGTCAGAGACACCAAGAAAGGGGAATTTCCATTTGGATGGTCAATAGTGTCCAGTTCTGCCAAGGACAAGACTAAGCTTTGAGAAAAAGCCATGGATTTGGTGATTGGATAACTGGTAACCTTTAGAAAAGTTTAGTTGACAGACAGAGACCGAAGTGAGTTAGTAAAAGTCATGAAGAGAATGAATGGCAACTTAAGGGAAGCAACATACTGGAGAAGTTGAGCAGCGGGATGAA...
GGCTGAGGAGACAGTCAAAGGAATAGAGAGGCCTGGCTTTGAGGGCCTCTTCACCACCAGCACAAGATAAGGCAAAGGACCATTTGTCAGAGACACCAAGAAAGGGGAATTTCCATTTGGATGGTCAATAGTGTCCAGTTCTGCCAAGGACAAGACTAAGCTTTGAGAAAAAGCCATGGATTTGGTGATTGGATAACTGGTAACCTTTAGAAAAGTTTAGTTGACAGACAGAGACCGAAGTGAGTTAGTAAAAGTCATGAAGAGAATGAATGGCAACTTAAGGGAAGCAACATACTGGAGAAGTTGAGCAGCGGGATGAA...
Task1_train_34158
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
AGGGATGGGTGCCCTGTCCTTCCCTGGGGCTCATGTCTTGGGGCCTGATTCCCCTGTCTCAAGGAAAGGGCAGAAACAGCACCGTGAGGTTCGTCACCACCCCAAATACTTTACCCCCTACCTTCCCCTCCAGCTGTGGGAACAGTTTCAGGACCACTGACATAGAGGCTTCCACAAAGGAGTTTTTGAAGGTCTCATAGTCACTGCCCCGCTTTCCCTTCAGCTCCGCCTGCCACTCCTCAAACCACTCGTAGGCAGTGGGTATGAGCATGATCATGGTGGACCGGCCTGGGGATCAGAGCTGATATTACTACTGCCCG...
AGGGATGGGTGCCCTGTCCTTCCCTGGGGCTCATGTCTTGGGGCCTGATTCCCCTGTCTCAAGGAAAGGGCAGAAACAGCACCGTGAGGTTCGTCACCACCCCAAATACTTTACCCCCTACCTTCCCCTCCAGCTGTGGGAACAGTTTCAGGACCACTGACATAGAGGCTTCCACAAAGGAGTTTTTGAAGGTCTCATAGTCACTGCCCCGCTTTCCCTTCAGCTCCGCCTGCCACTCCTCAAACCACTCGTAGGCAGTGGGTATGAGCATGATCATGGTGGACCGGCCTGGGGATCAGAGCTGATATTACTACTGCCCG...
Task1_train_34159
Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
GTAAGAGGCAGAGATGAAGCATTCACAAGTAGTTTGGCTCTCAAGTGTGCTTTCAGTAACTATCCTCTACTGCTTCCCAGCCGCTTTCTCTTCCTTATTATCCATTAGTGTCTGGTAGCATTTCATTTAATCTGCAGGTATATTCTCCCAACAGTTTATTGTCATGTGATGTCCTCAGCCAAGATTGTGAGGCAGAGAGGAGCTGTCCCAACCTACTATACCACCGAGGCTGGAGAGATCATATTTTTGGTATTAAACTGGAGTCTCTCCATCCTTCACATTGTTGATGTCCTCTGTAGCAAACCGGAAAAGTCAGTGAC...
GTAAGAGGCAGAGATGAAGCATTCACAAGTAGTTTGGCTCTCAAGTGTGCTTTCAGTAACTATCCTCTACTGCTTCCCAGCCGCTTTCTCTTCCTTATTATCCATTAGTGTCTGGTAGCATTTCATTTAATCTGCAGGTATATTCTCCCAACAGTTTATTGTCATGTGATGTCCTCAGCCAAGATTGTGAGGCAGAGAGGAGCTGTCCCAACCTACTATACCACCGAGGCTGGAGAGATCATATTTTTGGTATTAAACTGGAGTCTCTCCATCCTTCACATTGTTGATGTCCTCTGTAGCAAACCGGAAAAGTCAGTGAC...
Task1_train_34160
A variant on Chromosome 2 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
CACCTGTTTAGTGCCCCCCAGATGACAGAGTACTCACAGCTTCAGACCCTGGAACATTAGCAATAATGTAGTCTGGCAATTTTAAATTTACAGTTCTGTTAATGAACTGGTTGTGAGGGGTACCTGAACCCTCTGAAAGCAGATGCAAAAATCTTTTTTTTTTTTTGAAATGGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAATCTCCACCTCCCGGGCTCAAGCCATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGACTACAGGTTTGTGCCACCATGCCCAGCTAAGTTTT...
CACCTGTTTAGTGCCCCCCAGATGACAGAGTACTCACAGCTTCAGACCCTGGAACATTAGCAATAATGTAGTCTGGCAATTTTAAATTTACAGTTCTGTTAATGAACTGGTTGTGAGGGGTACCTGAACCCTCTGAAAGCAGATGCAAAAATCTTTTTTTTTTTTTGAAATGGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAATCTCCACCTCCCGGGCTCAAGCCATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGACTACAGGTTTGTGCCACCATGCCCAGCTAAGTTTT...
Task1_train_34161
A mutation on Chromosome 2 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GCTCACCGCAACCTCCACCTCCTGGGTTCAAGAGATCCTCCTGCATCAGCCTGCCGAGTAGCTGGGATTACAGGCATGTGCCACCAGGCCCGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAGCCACGCCCAGCACCTCTTTATTTTTCTTCCCATCACATATCTCCTATGTTTAAACGTCTCTTAACCACCTATCTCCACCTACTAGAAAGTGAGCTTCATTAGG...
GCTCACCGCAACCTCCACCTCCTGGGTTCAAGAGATCCTCCTGCATCAGCCTGCCGAGTAGCTGGGATTACAGGCATGTGCCACCAGGCCCGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAGCCACGCCCAGCACCTCTTTATTTTTCTTCCCATCACATATCTCCTATGTTTAAACGTCTCTTAACCACCTATCTCCACCTACTAGAAAGTGAGCTTCATTAGG...
Task1_train_34162
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCA...
GCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCA...
Task1_train_34163
The following genetic variant occurs on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
AGTGGTTCTTAAACCTGCTTCACCTGCATAATTTATACAAGTGCCATTGCCCAGGCCCCACCACAGATCAGTTAAATCAGAATCTTCGAAGGTATCAGACACGGGTGTTTCTAAAGCTCCTCCGCGCCCATTCTCTCCTCTGGGAATTCATGTGTAGCCAGGAATGAAAAGGTCTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCT...
AGTGGTTCTTAAACCTGCTTCACCTGCATAATTTATACAAGTGCCATTGCCCAGGCCCCACCACAGATCAGTTAAATCAGAATCTTCGAAGGTATCAGACACGGGTGTTTCTAAAGCTCCTCCGCGCCCATTCTCTCCTCTGGGAATTCATGTGTAGCCAGGAATGAAAAGGTCTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCT...
Task1_train_34164
Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Benign
CTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCTAACACATAAGAAATGCGCAGGAATCAAACGCAAACTGGTGAACCAACTAGAGGGCCGCGGGGGCAGAAGTGTCCGGCGGGGATCCGGACAGCGCATCCGGAAGCGCCATGGGCCAACGCTCGCAGGAACCTGAACCCCTGGGCCAGCGCCGCCTTTGCTCGCAGAGGCCTCTA...
CTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCTAACACATAAGAAATGCGCAGGAATCAAACGCAAACTGGTGAACCAACTAGAGGGCCGCGGGGGCAGAAGTGTCCGGCGGGGATCCGGACAGCGCATCCGGAAGCGCCATGGGCCAACGCTCGCAGGAACCTGAACCCCTGGGCCAGCGCCGCCTTTGCTCGCAGAGGCCTCTA...
Task1_train_34165
This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
TTTTTTTTTTTCTTTTAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTTCCAAGTAGCTGGGATAACAGGCATGCACTACCACATCCAGCTAATTTTGTATTTTTTTTAGTAGATATGTGGTTTCACCATGTTAGGCTGGTCTGGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCAAATTTTTATATTTTTTATAGAGA...
TTTTTTTTTTTCTTTTAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTTCCAAGTAGCTGGGATAACAGGCATGCACTACCACATCCAGCTAATTTTGTATTTTTTTTAGTAGATATGTGGTTTCACCATGTTAGGCTGGTCTGGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCAAATTTTTATATTTTTTATAGAGA...
Task1_train_34166
A variant on Chromosome 2 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
AGGGTGTGTGTGTGTGTGTGTGTGGCCAGCTGGGGTGCTGTGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCT...
AGGGTGTGTGTGTGTGTGTGTGTGGCCAGCTGGGGTGCTGTGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCT...
Task1_train_34167
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
GGTTTTGTTGAATTCATGTCTGGCCAGGAGGGCTACAGGTATCTGGCAGACTCCTCCAGGAGGATCCTCTGGGGTCTCACCCTCCAAGGAGCCTGGGGCTGCAGAACCCAAATAGGCAGACTCCCCTGGGAGTTCCTCAATAGGAGAGGGGCAAGTGCAGGGCTGGGAAAGTACTGGGGGTGTGGGAGGCTGTTTCTGGGGTGTCTCAGAGCCTCTAAGACAAGCAAAAGGGTGGGCAGGGGCCAGGCAGCCAGTTCAGGCCTTCAGTGTATCCACGCTCTGGGAAGAGATCACGGACATTCCTGCCGGCCTCAGAAACA...
GGTTTTGTTGAATTCATGTCTGGCCAGGAGGGCTACAGGTATCTGGCAGACTCCTCCAGGAGGATCCTCTGGGGTCTCACCCTCCAAGGAGCCTGGGGCTGCAGAACCCAAATAGGCAGACTCCCCTGGGAGTTCCTCAATAGGAGAGGGGCAAGTGCAGGGCTGGGAAAGTACTGGGGGTGTGGGAGGCTGTTTCTGGGGTGTCTCAGAGCCTCTAAGACAAGCAAAAGGGTGGGCAGGGGCCAGGCAGCCAGTTCAGGCCTTCAGTGTATCCACGCTCTGGGAAGAGATCACGGACATTCCTGCCGGCCTCAGAAACA...
Task1_train_34168
An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Benign
GTCCAAGGCAGAGTTTGAGAAGCTAGTTCCCCAAGAGGCCTGGGTCAGGACTGATAAATCCCAGATCTGCTACTTCCAAGCTGCATGGCCTTGGGCAAGTCACTTCCACTTTCTGAGCCTCTGTTATCTTATCTTTGAAATGTGATGGATAATAGTCCCTATCTTGCAAGTTGTCAAACCCTTTTTTTTTTTTTTTCCTTGAGATAGGATCTTACTCTGAGACCCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGC...
GTCCAAGGCAGAGTTTGAGAAGCTAGTTCCCCAAGAGGCCTGGGTCAGGACTGATAAATCCCAGATCTGCTACTTCCAAGCTGCATGGCCTTGGGCAAGTCACTTCCACTTTCTGAGCCTCTGTTATCTTATCTTTGAAATGTGATGGATAATAGTCCCTATCTTGCAAGTTGTCAAACCCTTTTTTTTTTTTTTTCCTTGAGATAGGATCTTACTCTGAGACCCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGC...
Task1_train_34169
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
GCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGCTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATG...
GCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGCTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATG...
Task1_train_34170
A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
CTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGC...
CTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGC...
Task1_train_34171
A variant has been detected on Chromosome 2. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
TCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGCACTGCAGGCTCGCACTTAGCCCTGGATACCCAGATTCATCCTCCTCCCCTGGGATGGCATAGAAGAGACTTTAAAACCAA...
TCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGCACTGCAGGCTCGCACTTAGCCCTGGATACCCAGATTCATCCTCCTCCCCTGGGATGGCATAGAAGAGACTTTAAAACCAA...
Task1_train_34172
A sequence alteration has been identified on Chromosome 2. Is it disease-inducing or harmless?
Benign
TGCTGGCTTTTAGTGTCCACCTTCCTTAAGGAGTAACAGTCACAGAGAAGGGACCAGCAAGGAGTGAAGCCCTGTTCTGAGCCTCGGAAGGGAGCGGCTGGGAAGCAGTCCTCTGGCAAGGACATCTGAGGGCCTACTAGTTTGACCCCTTCTTTCCAGAATCTCCAGTGGAATGGCACTGATGACTGAGGGTCTGGGGGGTCTACCTCTGCCCCTTGCCAATAACCGTGGGCACCTGCAAAGCTCTCACCTGGTGCCAGGCACTGCTCTGAGTGCCTTGCGCATACACGCTTTTCACACCGCCTGGGGAGGAAGGTACG...
TGCTGGCTTTTAGTGTCCACCTTCCTTAAGGAGTAACAGTCACAGAGAAGGGACCAGCAAGGAGTGAAGCCCTGTTCTGAGCCTCGGAAGGGAGCGGCTGGGAAGCAGTCCTCTGGCAAGGACATCTGAGGGCCTACTAGTTTGACCCCTTCTTTCCAGAATCTCCAGTGGAATGGCACTGATGACTGAGGGTCTGGGGGGTCTACCTCTGCCCCTTGCCAATAACCGTGGGCACCTGCAAAGCTCTCACCTGGTGCCAGGCACTGCTCTGAGTGCCTTGCGCATACACGCTTTTCACACCGCCTGGGGAGGAAGGTACG...
Task1_train_34173
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
ATTTACCTGAAGGGCCAGGGCCCAGGGCCACGTGGGGGCACGTTCTATGTGAATGGCTCCCCTGGAGTTGGGCAACCAGGCACCTTGTGTGGGGCTTGTTAACAATGTACGTTCCTGAGTCCTTCCCCCAGCAGTGTGCAGTCTCACAGGCATCCCCAGGAACGTGGATGCAGGAGTTGGCAGAGGAATAAATGGAGATCCTACCAGGCCTGGGCACCAAAGAAACCAGCTGGGCTCTGGAAATTCTAACCCTGATCCCCACTTTAATGAGACCCTGTCCCTCTCTCACACAGACACACTCTCTCATTCACACACACTCA...
ATTTACCTGAAGGGCCAGGGCCCAGGGCCACGTGGGGGCACGTTCTATGTGAATGGCTCCCCTGGAGTTGGGCAACCAGGCACCTTGTGTGGGGCTTGTTAACAATGTACGTTCCTGAGTCCTTCCCCCAGCAGTGTGCAGTCTCACAGGCATCCCCAGGAACGTGGATGCAGGAGTTGGCAGAGGAATAAATGGAGATCCTACCAGGCCTGGGCACCAAAGAAACCAGCTGGGCTCTGGAAATTCTAACCCTGATCCCCACTTTAATGAGACCCTGTCCCTCTCTCACACAGACACACTCTCTCATTCACACACACTCA...
Task1_train_34174
This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Benign
TACATAAAGGAACTTGTCTAGCTTTGTACAGGTCCCGCGCAGCAACACTTTCTCAGAAGGCTCCTGGGGCTACCCCAGCCTCTGCGTTCCTCAGCCTGAGCCTGCTCTACTGTTGCTGATGCACTTACCACCCATCACCGTTCAACAGAGCATACATATACTTGTCTATCTATTTACTGTCTGTCTCCACCCCTGGACACTGCTTTATATGGGAGCACATTAGTCTGTGCTTCACTGCTGGTCTCCAGCTCCTTGCTCCTGTGGCACCTGTCAACAGTGCTCTATGGGAAGTGTGTGATCCAAGGGGCCAGAGGCAGTTC...
TACATAAAGGAACTTGTCTAGCTTTGTACAGGTCCCGCGCAGCAACACTTTCTCAGAAGGCTCCTGGGGCTACCCCAGCCTCTGCGTTCCTCAGCCTGAGCCTGCTCTACTGTTGCTGATGCACTTACCACCCATCACCGTTCAACAGAGCATACATATACTTGTCTATCTATTTACTGTCTGTCTCCACCCCTGGACACTGCTTTATATGGGAGCACATTAGTCTGTGCTTCACTGCTGGTCTCCAGCTCCTTGCTCCTGTGGCACCTGTCAACAGTGCTCTATGGGAAGTGTGTGATCCAAGGGGCCAGAGGCAGTTC...
Task1_train_34175
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
AACACTGATGACATAATAAGAAATGAACAGTTAACATTTACATAGCACATATTACACAGCAGGTACCGCTCTCAGTGCTTCTCTTGGAATACTCTATTTAATCTTCTGACCACTTCAGAATAAAAACCAAAAAACATTTTTAAATAAGCCTATGACTATAAAAATTAAAAAGTGGGAGTATTAAGTTATCTCAAAATTTTTCCCAAGCAGAGCTTGGGTAGGGCAGAGCTGAGGAAAGAATTCTACCTGGGGGGATCTGGGTGGACAGCCAGGAGTAGCCTGCAGGAGGCGCTCATGTTTTGCTGAATTCTTGCAGTTTT...
AACACTGATGACATAATAAGAAATGAACAGTTAACATTTACATAGCACATATTACACAGCAGGTACCGCTCTCAGTGCTTCTCTTGGAATACTCTATTTAATCTTCTGACCACTTCAGAATAAAAACCAAAAAACATTTTTAAATAAGCCTATGACTATAAAAATTAAAAAGTGGGAGTATTAAGTTATCTCAAAATTTTTCCCAAGCAGAGCTTGGGTAGGGCAGAGCTGAGGAAAGAATTCTACCTGGGGGGATCTGGGTGGACAGCCAGGAGTAGCCTGCAGGAGGCGCTCATGTTTTGCTGAATTCTTGCAGTTTT...
Task1_train_34176
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TTTACACATGGAAAAAGAGTAACAAAGGAAAAAGCCTGTTAATGATGAAGACAGACAAAAGAAAGCAACTAAACAAAGAATATTTTTTAATTGCTTTGAAGAGTGGTAGAAGACGTGTGAGCAGGAAAAAGATTACAGTTTTAAACAAAAAGATGAAAGGTCACAGTGATCAAGAACAGAACTGAGTTAAAATACATATATATATATATATTTTTTGCACACTTTGGGAGGCCAAGACCAACCTGGCCAACACAGCAAGATCCCATCTCTATCAATCACTCAATCAATTTTTTGTGTGTGTAGTATATTTTTTTTTTTTT...
TTTACACATGGAAAAAGAGTAACAAAGGAAAAAGCCTGTTAATGATGAAGACAGACAAAAGAAAGCAACTAAACAAAGAATATTTTTTAATTGCTTTGAAGAGTGGTAGAAGACGTGTGAGCAGGAAAAAGATTACAGTTTTAAACAAAAAGATGAAAGGTCACAGTGATCAAGAACAGAACTGAGTTAAAATACATATATATATATATATTTTTTGCACACTTTGGGAGGCCAAGACCAACCTGGCCAACACAGCAAGATCCCATCTCTATCAATCACTCAATCAATTTTTTGTGTGTGTAGTATATTTTTTTTTTTTT...
Task1_train_34177
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
CTTCCTCCCAGGTTCAAGTGATCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACACCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCTGGCTGGAGTATTTTTCTTAACCAACTTTATTGAGGTAGAATTTACATGCCATAAAATTACCCATTTTATGTGTACAGCTTTATGTTTTTTTATTAATTTAGCAAGCTGT...
CTTCCTCCCAGGTTCAAGTGATCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACACCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCTGGCTGGAGTATTTTTCTTAACCAACTTTATTGAGGTAGAATTTACATGCCATAAAATTACCCATTTTATGTGTACAGCTTTATGTTTTTTTATTAATTTAGCAAGCTGT...
Task1_train_34178
A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
ACAATGTGTCAAAAGGTTTGGAGAACATTGATCAAGGAAACATTTTTCTGATTGATGAATAAACTAACTCTCAGTTATGGTCATCTACCCCTGCTAGTAGGTTACACAGTGTATTATATAGTACATGCAGTGTGTTATATAAAATAAAAAAAAAACCCAGACAGTAATTGCAATGAATCGACCATATACATCTGTCTCTTGTGTGTCATATCTGTGTTTTTTGTCCCTTGGATTTGGATTGTGATTTCCCCATCCCCAGTATTTAGGATACAGAGTGTTTTTTACTTGGATTGACCAGCTGTTTGTTTGCTTACTTTTTT...
ACAATGTGTCAAAAGGTTTGGAGAACATTGATCAAGGAAACATTTTTCTGATTGATGAATAAACTAACTCTCAGTTATGGTCATCTACCCCTGCTAGTAGGTTACACAGTGTATTATATAGTACATGCAGTGTGTTATATAAAATAAAAAAAAAACCCAGACAGTAATTGCAATGAATCGACCATATACATCTGTCTCTTGTGTGTCATATCTGTGTTTTTTGTCCCTTGGATTTGGATTGTGATTTCCCCATCCCCAGTATTTAGGATACAGAGTGTTTTTTACTTGGATTGACCAGCTGTTTGTTTGCTTACTTTTTT...
Task1_train_34179
A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation?
Benign
AGAAATGAGGAAGCAATATCTGTAGGTGGTAACTGTTACTAACTTGTAGAGGAAGAAAATGAGTACGAAATGTAAAGTTTCACTAGAAAGTTTAAAGTAGGTACAAGGTTGACAGAGCAAGTAGTTTCAAGGGAAGGATCTCTTCTGGGAAGTGGTGGTGGCCTGCGTAGGCAGGCAGTTGATACAGCCTTAAGATGTAGGTCAGAGAGACTGTGGTATAGAAAAGTAGGTTTGGAAGGTGGGAGAGTGGCTGAGCACACTGGTTCACTGGGAAAAAGTAGTCAGTCTGGGATAGAGCTTGGAGGATGGCCATGTGGCAG...
AGAAATGAGGAAGCAATATCTGTAGGTGGTAACTGTTACTAACTTGTAGAGGAAGAAAATGAGTACGAAATGTAAAGTTTCACTAGAAAGTTTAAAGTAGGTACAAGGTTGACAGAGCAAGTAGTTTCAAGGGAAGGATCTCTTCTGGGAAGTGGTGGTGGCCTGCGTAGGCAGGCAGTTGATACAGCCTTAAGATGTAGGTCAGAGAGACTGTGGTATAGAAAAGTAGGTTTGGAAGGTGGGAGAGTGGCTGAGCACACTGGTTCACTGGGAAAAAGTAGTCAGTCTGGGATAGAGCTTGGAGGATGGCCATGTGGCAG...
Task1_train_34180
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
TGGATTAGTATCTACTATGTTCGTAACTGTTTTCTATTTGTTACAGTTGTTTTTTGTCTCTTCTTTCCCCTGTCCCGTCCATTGTAATGACTGTTTATCAACGTTTTCCCAAAGATTGCCTGAGCTCTCAACCAGTATCATGTCTATCTCTGTGTGCAGCAAAATATACTTCCTCATACCTGTGCATAATAAGGCAGGTGCGAAGGTGTTCATGCAGCACTGCCTTTAAAGTGGGAAAACCCAGTCTTCATCAATGGGGCAATAGGAATTTAAATTATGGTTCACCGACCTACAGGAATACCAGGAGGCAGTCAAACATA...
TGGATTAGTATCTACTATGTTCGTAACTGTTTTCTATTTGTTACAGTTGTTTTTTGTCTCTTCTTTCCCCTGTCCCGTCCATTGTAATGACTGTTTATCAACGTTTTCCCAAAGATTGCCTGAGCTCTCAACCAGTATCATGTCTATCTCTGTGTGCAGCAAAATATACTTCCTCATACCTGTGCATAATAAGGCAGGTGCGAAGGTGTTCATGCAGCACTGCCTTTAAAGTGGGAAAACCCAGTCTTCATCAATGGGGCAATAGGAATTTAAATTATGGTTCACCGACCTACAGGAATACCAGGAGGCAGTCAAACATA...
Task1_train_34181
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TTGTGCTGACTTCTCAAAGCTGGAGCAAACGGAAAACACCTGGGTCTGGGGGCAGGGCATCTAAGGCCAATTAACATACACCAAAAGGAAAAACCCCATCTCCCCACACTGAGTAACCAAGGATCAAAGGCTACTCTCCCTACAACCCTCCCCCTTCCACTGCATCTCAGATGGAAAGGGAGACGGCCCTGGATTGACCACAGACCAAGCACGGGCCATCCCTTCATCCGCATAGGGCGTCAATTCACCTCAGCCTTTCATTAGCCATGGACCAAATCCTTCACCCAGATAAGGGGTAGCCAACAGGTACCTCAAAAGGG...
TTGTGCTGACTTCTCAAAGCTGGAGCAAACGGAAAACACCTGGGTCTGGGGGCAGGGCATCTAAGGCCAATTAACATACACCAAAAGGAAAAACCCCATCTCCCCACACTGAGTAACCAAGGATCAAAGGCTACTCTCCCTACAACCCTCCCCCTTCCACTGCATCTCAGATGGAAAGGGAGACGGCCCTGGATTGACCACAGACCAAGCACGGGCCATCCCTTCATCCGCATAGGGCGTCAATTCACCTCAGCCTTTCATTAGCCATGGACCAAATCCTTCACCCAGATAAGGGGTAGCCAACAGGTACCTCAAAAGGG...
Task1_train_34182
A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TGCCCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTGCACTACTATGCCCGGCCGAGTCTATGATCTTTGGAAGATGAGGTCTGACTTTGGCTCCTCGCTGCAGTTAGAGGCTGCAAGCTGCAGCAGGGGCTGAGGAACCCAAGGCCACACCCAGGTTATACACTTACTGTTTCATGAAACGAAGCCGGGCTCTCCTCCGCCGGCCTGGAAGAGGAAAGCAAGGGCGCCAGTCAGTGTGGGCTGTGG...
TGCCCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTGCACTACTATGCCCGGCCGAGTCTATGATCTTTGGAAGATGAGGTCTGACTTTGGCTCCTCGCTGCAGTTAGAGGCTGCAAGCTGCAGCAGGGGCTGAGGAACCCAAGGCCACACCCAGGTTATACACTTACTGTTTCATGAAACGAAGCCGGGCTCTCCTCCGCCGGCCTGGAAGAGGAAAGCAAGGGCGCCAGTCAGTGTGGGCTGTGG...
Task1_train_34183
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
TCTAAGTTCATCAGATCTTCTCTTTTGGTTTTTATTTTTAAATTAATTAAATATTATTATTCTTATTATTTGAGACAGAGTCTGCTCTGTCACCCAGGCTGGAGTGCACTGGCACGATCCCAGCTCACTGCAACCTCCACCTCCCACGTTCAAGCAATTCTGGTGCCTCAGCCATCCAAAGAAGCTGGGATTACAGGCGTGCACCACCATACCCAGTTAATTTTTGCATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCACCCATCTGGGCCTCCCAGTGTGC...
TCTAAGTTCATCAGATCTTCTCTTTTGGTTTTTATTTTTAAATTAATTAAATATTATTATTCTTATTATTTGAGACAGAGTCTGCTCTGTCACCCAGGCTGGAGTGCACTGGCACGATCCCAGCTCACTGCAACCTCCACCTCCCACGTTCAAGCAATTCTGGTGCCTCAGCCATCCAAAGAAGCTGGGATTACAGGCGTGCACCACCATACCCAGTTAATTTTTGCATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCACCCATCTGGGCCTCCCAGTGTGC...
Task1_train_34184
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
ACACATCTACAGCCTAAAGCAGAGCTGCCTGGGCCAATGCTATACCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCA...
ACACATCTACAGCCTAAAGCAGAGCTGCCTGGGCCAATGCTATACCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCA...
Task1_train_34185
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
AAGACTCCATCTCAAAAAAAAAAAACTAAACTGTGATTTGAGGCAGCTGAGGAACTAAGAGCCCAGGAAGAAAGGACAGTAATGAAAAAGCCAACAAATGAGACCAGTATTTAGTGGTATTTCCCCTATAGGCAATTATTTATTCAAAAATACAGGAACAGCATTTATTTGCTTAACTGCAGATATGCAAACAAAAAATTTAAATGGTCTTAGTTACTATCTACATGCAGATGCTTCCAATCTTAATCTCTAGTCATGACCACTGATCCTTTTTTGATTCCTTTAATTCAATTTATATATCTCTAAGTGAATATCTTGTC...
AAGACTCCATCTCAAAAAAAAAAAACTAAACTGTGATTTGAGGCAGCTGAGGAACTAAGAGCCCAGGAAGAAAGGACAGTAATGAAAAAGCCAACAAATGAGACCAGTATTTAGTGGTATTTCCCCTATAGGCAATTATTTATTCAAAAATACAGGAACAGCATTTATTTGCTTAACTGCAGATATGCAAACAAAAAATTTAAATGGTCTTAGTTACTATCTACATGCAGATGCTTCCAATCTTAATCTCTAGTCATGACCACTGATCCTTTTTTGATTCCTTTAATTCAATTTATATATCTCTAAGTGAATATCTTGTC...
Task1_train_34186
This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Benign
GAAGGGACCCTGAGGTGATGGCACTGTTTAGTGTCTTGACTGTGTAGGTGGATACATGAAGCTACATAGGTGATAGCATTGTATATAATTAAACACACATACACATTCATGAGTGTAAGTAAAACGGAAGAAATCTGAATGATACAGGTGGGTTAATATTCTGGCTGTGATATTAGTTCTCTAAAATGTTACCATTGGAGAAAACTGGGCAAAATGTACAAGGGATCTCTTTGTATTGTTTTCCAACTGCCTGTGAATCTGCAATTATCTCAATTAAAATTTCAATTAAAAAAAATGAGGAGAGGGCCTGTGCTTTGCCC...
GAAGGGACCCTGAGGTGATGGCACTGTTTAGTGTCTTGACTGTGTAGGTGGATACATGAAGCTACATAGGTGATAGCATTGTATATAATTAAACACACATACACATTCATGAGTGTAAGTAAAACGGAAGAAATCTGAATGATACAGGTGGGTTAATATTCTGGCTGTGATATTAGTTCTCTAAAATGTTACCATTGGAGAAAACTGGGCAAAATGTACAAGGGATCTCTTTGTATTGTTTTCCAACTGCCTGTGAATCTGCAATTATCTCAATTAAAATTTCAATTAAAAAAAATGAGGAGAGGGCCTGTGCTTTGCCC...
Task1_train_34187
Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GGGAACTTCCACTGAGCCTCCTCTGTCCACTTCTGGCGCCTCTCACTAAGCCCTTTGCTCAGCCTCCCACAGGAGGAAAAGTTTATTGGGCGGGTCAGTGTCGACCTTTCTGCACCTGTCTGCTGGTGGGCTGGTACTGTGGCTGTGCTTGTGGGTATAGCTCTCCTTTTCTGCCCAGTCTTCCTGCTCCCTGTCCCCACAGAGAGCACCCTCAAGGCCAGCCCACTGCACATCCTCTGGCTCCAGCTCCTTGCCCGTGTGCCTGACTGGGAAAGGGCATTCCAGGGCCTTCCTGCAGATCTAGCCACACCTGGCTTTCC...
GGGAACTTCCACTGAGCCTCCTCTGTCCACTTCTGGCGCCTCTCACTAAGCCCTTTGCTCAGCCTCCCACAGGAGGAAAAGTTTATTGGGCGGGTCAGTGTCGACCTTTCTGCACCTGTCTGCTGGTGGGCTGGTACTGTGGCTGTGCTTGTGGGTATAGCTCTCCTTTTCTGCCCAGTCTTCCTGCTCCCTGTCCCCACAGAGAGCACCCTCAAGGCCAGCCCACTGCACATCCTCTGGCTCCAGCTCCTTGCCCGTGTGCCTGACTGGGAAAGGGCATTCCAGGGCCTTCCTGCAGATCTAGCCACACCTGGCTTTCC...
Task1_train_34188
A variant was discovered on Chromosome 2. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TAGCTTTGCTGAATTGGCCTGGGAATGCTGCCCCTGGAAGGCATTGGACAGAACAGGGACAGTCCTGTTGCGTGAGGGGCATGGGTATGTGCTCATCAGGCCAGCTCCTTCCATGACCTGCTCAGAGCCCCGTGCCAGCCCCTCTGTCCTCTGTTCCTGGACAGTTGTTCCATATCCTCCTTCCCAGTGCCCCAGGTGTGATATTCCTTCCACCCAGGGAAGGGCATTTGAAAAATATTTTCTTTCGCTGTACCTTACTGCCTTGCTCGCTCCTGCCCTCACTCCTGCGATGGTTTCTTTGGCAGCTCAGTCGTAGCGTT...
TAGCTTTGCTGAATTGGCCTGGGAATGCTGCCCCTGGAAGGCATTGGACAGAACAGGGACAGTCCTGTTGCGTGAGGGGCATGGGTATGTGCTCATCAGGCCAGCTCCTTCCATGACCTGCTCAGAGCCCCGTGCCAGCCCCTCTGTCCTCTGTTCCTGGACAGTTGTTCCATATCCTCCTTCCCAGTGCCCCAGGTGTGATATTCCTTCCACCCAGGGAAGGGCATTTGAAAAATATTTTCTTTCGCTGTACCTTACTGCCTTGCTCGCTCCTGCCCTCACTCCTGCGATGGTTTCTTTGGCAGCTCAGTCGTAGCGTT...
Task1_train_34189
A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation?
Benign
TGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGGGCCTGCCACCACACCTTGCTAATTTTTTGTATTTAGACGGGGTTTTACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTACGATTCAACATTTCAAAGCAAAAATTTTATCCAAAAGATCTAGGATTGGGGGTGGGTGGGTGTGAGAGAGGACACTGAAAACAAGGGAGCCCTAATAAACCA...
TGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGGGCCTGCCACCACACCTTGCTAATTTTTTGTATTTAGACGGGGTTTTACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTACGATTCAACATTTCAAAGCAAAAATTTTATCCAAAAGATCTAGGATTGGGGGTGGGTGGGTGTGAGAGAGGACACTGAAAACAAGGGAGCCCTAATAAACCA...
Task1_train_34190
A variant affecting Chromosome 2 has been observed. Determine if it's benign or associated with disease.
Benign
AACCTCCAAAGTTTGAAAGATTTGATACTCATCAACATTCTCAAGAGGCAGAAGGGCAAGGTGCTTCCTTATGTAGTTTCTCCATGACTGTCCTTCCCCACTTTCCCAGTACTGACTGGAAAGAAAAACAAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCC...
AACCTCCAAAGTTTGAAAGATTTGATACTCATCAACATTCTCAAGAGGCAGAAGGGCAAGGTGCTTCCTTATGTAGTTTCTCCATGACTGTCCTTCCCCACTTTCCCAGTACTGACTGGAAAGAAAAACAAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCC...
Task1_train_34191
This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Benign
ATATTTGTCTTTCTGTGTCTGGCTTATTTCTAAGTGCACTTTTAATTAACATTAAATGTTTCATGGGTAGTGCAAATATGTTATGATAATAGTAGCTATTAATCAAAATTCTATGTATTACTGCTGTTATATAATTGTGTGGCTTAATAAATCGAAATTAAATTGAAGTATAATTAATTTTAACTCTCCAGCCTGAGTATTAAAACAGGAACTACTGATGCTTAGGCAGTAAGCACTGTGAGTAAATCATTACAAAATAAAAGCATACTCATAAACATTGTAACAAAACATATCAAGGAGTTATTATAATTCTCCCAAGA...
ATATTTGTCTTTCTGTGTCTGGCTTATTTCTAAGTGCACTTTTAATTAACATTAAATGTTTCATGGGTAGTGCAAATATGTTATGATAATAGTAGCTATTAATCAAAATTCTATGTATTACTGCTGTTATATAATTGTGTGGCTTAATAAATCGAAATTAAATTGAAGTATAATTAATTTTAACTCTCCAGCCTGAGTATTAAAACAGGAACTACTGATGCTTAGGCAGTAAGCACTGTGAGTAAATCATTACAAAATAAAAGCATACTCATAAACATTGTAACAAAACATATCAAGGAGTTATTATAATTCTCCCAAGA...
Task1_train_34192
Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
CCATAAACAGAGATGCCTTCTAAAATGCATTTAAATGAACATAATAGCCATGCTGAAATGGAATGAGGTTATTTACTAACATAAGTAATTTTGGACTTGAGAACTTGAACTCTTCACCCTCAGTTTAAAGAGAAACCAAGGACTTAAAAAATAGAGAATCCTGGTCCCTGGATTTCACATTCATGAAGAAATGCACAGTCAATTTTTAAGATGCCTTCTTTGTATTCTAGAACTGAGCAAATTAGTGATTACACTCTACATAATGGGAGCTATGATTGTCTTTAATAGAGATAAGAATTAGAAATAGGAAAAGGTAGCTG...
CCATAAACAGAGATGCCTTCTAAAATGCATTTAAATGAACATAATAGCCATGCTGAAATGGAATGAGGTTATTTACTAACATAAGTAATTTTGGACTTGAGAACTTGAACTCTTCACCCTCAGTTTAAAGAGAAACCAAGGACTTAAAAAATAGAGAATCCTGGTCCCTGGATTTCACATTCATGAAGAAATGCACAGTCAATTTTTAAGATGCCTTCTTTGTATTCTAGAACTGAGCAAATTAGTGATTACACTCTACATAATGGGAGCTATGATTGTCTTTAATAGAGATAAGAATTAGAAATAGGAAAAGGTAGCTG...
Task1_train_34193
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
ACAATTCTGAAAATACTTGCAAATGTAAATTTGCATTAATAAGAAAATAAAGCTGGATGTGTTTTCAACATGTAGCTTTAAGTATATATATATTTTAATGGCCTCAGTGGGGGAAAATCATTTTAACTTATGTAAATATCCCTTTTTGCCTCTCTTGTGTCCTATAAAGTTGCCCAACAAGAGGTCCTCCCATAAGATTTGGAAATCAGAAAAGGATGACTCAATATTCTCCATTGGTACCTAAGGCAGACACAGGAACAGAGGTGAGGGCTGGAGAAACACCTGGAAGGATGCTGCAGGAAGCTGAGAACATCAACACT...
ACAATTCTGAAAATACTTGCAAATGTAAATTTGCATTAATAAGAAAATAAAGCTGGATGTGTTTTCAACATGTAGCTTTAAGTATATATATATTTTAATGGCCTCAGTGGGGGAAAATCATTTTAACTTATGTAAATATCCCTTTTTGCCTCTCTTGTGTCCTATAAAGTTGCCCAACAAGAGGTCCTCCCATAAGATTTGGAAATCAGAAAAGGATGACTCAATATTCTCCATTGGTACCTAAGGCAGACACAGGAACAGAGGTGAGGGCTGGAGAAACACCTGGAAGGATGCTGCAGGAAGCTGAGAACATCAACACT...
Task1_train_34194
This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Benign
CCCTTTTTGCTGTGCTTGTGTCCTATAGAGTTGCCCAATAAGAGTTCCTCCCGTGAGATTTGGAAATCAGAAAAGGAAGACTCAATATTATCCATTGGTAACTAAGACAGGTACAAGGACAGAGGTGAGGACTGGAGAAACACCTGGAAGGATGTTGCAGGAAGCTAAGAGCATCAGCACGCCTACCCCTAAGCTTCCAGACAGGACTGAGGACCACATGGTTAGAAAGCCCTTACTTTAGGGGCGGATGCATTCTGTTTTCTGAGGGAGAACCAGAGAATCCTGCCTCTAATATCAACTTTCCTGACTACTGTATCCTT...
CCCTTTTTGCTGTGCTTGTGTCCTATAGAGTTGCCCAATAAGAGTTCCTCCCGTGAGATTTGGAAATCAGAAAAGGAAGACTCAATATTATCCATTGGTAACTAAGACAGGTACAAGGACAGAGGTGAGGACTGGAGAAACACCTGGAAGGATGTTGCAGGAAGCTAAGAGCATCAGCACGCCTACCCCTAAGCTTCCAGACAGGACTGAGGACCACATGGTTAGAAAGCCCTTACTTTAGGGGCGGATGCATTCTGTTTTCTGAGGGAGAACCAGAGAATCCTGCCTCTAATATCAACTTTCCTGACTACTGTATCCTT...
Task1_train_34195
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
GTTGTAAGTATGAGGAAGAGCAGAGCTTGTCAATCTTCTACTTGCTTTCACTCCCACTGTATTTCCTAACAACAGCAACCACAGCAACAGCCATAACATCACAGGACAAACCTCTACTACTTCCAAGGCTTTTATTTCAGTAAATCTGCTCTACCTCTATCTCAGGCAGCTAGAAGTTTTGATACTCATACAAATACTACTGCAGCTTTCTGTTCATAATTGGAAAAGTAGACAAGACTCAGTGTAATGCAGGCATTCCTTATGCCAGTCAGCATTCAGTTTTTGGATCATCATTGCACACATATACACACCATGTGCCT...
GTTGTAAGTATGAGGAAGAGCAGAGCTTGTCAATCTTCTACTTGCTTTCACTCCCACTGTATTTCCTAACAACAGCAACCACAGCAACAGCCATAACATCACAGGACAAACCTCTACTACTTCCAAGGCTTTTATTTCAGTAAATCTGCTCTACCTCTATCTCAGGCAGCTAGAAGTTTTGATACTCATACAAATACTACTGCAGCTTTCTGTTCATAATTGGAAAAGTAGACAAGACTCAGTGTAATGCAGGCATTCCTTATGCCAGTCAGCATTCAGTTTTTGGATCATCATTGCACACATATACACACCATGTGCCT...
Task1_train_34196
An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Benign
CAATGCATCTATCTCAGTAAATCTCCTCTACCTCTATCTCATGCTGCTAGAATTTTTGAGAGTCATGCAAGTACTGCTGTACCCTTTAGTTCATAATTTGAAAAGAAGGAAGCCTCAGTGCAACATAGGCAGTCCTTAAACCAGTCACCCTTTAGTTTCTGGATCATCATTATACACATAAACACAGCATGTATCATAAATATATATATATATATATATATATATGCACACACACACACACACACACACACACACACACACACACACATATATCCACGAGGCAATACTTACCACAGTCTGTGTTTTCTGTGGTATTATAT...
CAATGCATCTATCTCAGTAAATCTCCTCTACCTCTATCTCATGCTGCTAGAATTTTTGAGAGTCATGCAAGTACTGCTGTACCCTTTAGTTCATAATTTGAAAAGAAGGAAGCCTCAGTGCAACATAGGCAGTCCTTAAACCAGTCACCCTTTAGTTTCTGGATCATCATTATACACATAAACACAGCATGTATCATAAATATATATATATATATATATATATATGCACACACACACACACACACACACACACACACACACACACACATATATCCACGAGGCAATACTTACCACAGTCTGTGTTTTCTGTGGTATTATAT...
Task1_train_34197
With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ACTTGGGTTCCAGAGACGAGGACCTGGATATCTTTTGGGGTGGGGACATTATTCATTCCACCAAAAATTAATATATTCTCCAAAATTGTCCTTCTTTAAAGTAAAATTTAAAAAATAACAAAGTATTTTTATGAAGCAAGAGAGCGGTACAAAATCTGAGACTTAGAGTCTGACTTATAAATCCTCTAACTTGTGAGTTTTAGCTGTTGGGGTATGCTCACTCCACTCCTTTATCTCACTCCTTTATCTGCTTAAAAGCAGCTTCTCCAGAAGGAAACTGATTGTCAAGAAAATTCTTCCTGGGAAATTTTATATCAGGG...
ACTTGGGTTCCAGAGACGAGGACCTGGATATCTTTTGGGGTGGGGACATTATTCATTCCACCAAAAATTAATATATTCTCCAAAATTGTCCTTCTTTAAAGTAAAATTTAAAAAATAACAAAGTATTTTTATGAAGCAAGAGAGCGGTACAAAATCTGAGACTTAGAGTCTGACTTATAAATCCTCTAACTTGTGAGTTTTAGCTGTTGGGGTATGCTCACTCCACTCCTTTATCTCACTCCTTTATCTGCTTAAAAGCAGCTTCTCCAGAAGGAAACTGATTGTCAAGAAAATTCTTCCTGGGAAATTTTATATCAGGG...
Task1_train_34198
The following genetic variant occurs on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
CTCGGGCTCCTGGGGCCACAGATCAGGGGACAAACACGGGCAGCTCTGCTCTGCTCTGCCTAAAGAGAGGTGCCCAGTGAATGCAGGTTCCAGACAAAAGGTGGAGCCTGGCATCCTGCCCTGCGTGTGGGCTCCAGCCTGCTGCCATCTGGGGAAACTGAGTCATGGCGAGGCTCGAGGATGTTTCTCAGACCACACCAGTCCCTGAAGGTCCCCTGACCTCCCAATTTTGATGGACAGTAAGAAGAGGTTCCCAGGCCGCCTGCCACAGGTTCTGACTCGGCCTGGGTTAGGGTAAGTCTCCGGGCTGCTGTCCTCAA...
CTCGGGCTCCTGGGGCCACAGATCAGGGGACAAACACGGGCAGCTCTGCTCTGCTCTGCCTAAAGAGAGGTGCCCAGTGAATGCAGGTTCCAGACAAAAGGTGGAGCCTGGCATCCTGCCCTGCGTGTGGGCTCCAGCCTGCTGCCATCTGGGGAAACTGAGTCATGGCGAGGCTCGAGGATGTTTCTCAGACCACACCAGTCCCTGAAGGTCCCCTGACCTCCCAATTTTGATGGACAGTAAGAAGAGGTTCCCAGGCCGCCTGCCACAGGTTCTGACTCGGCCTGGGTTAGGGTAAGTCTCCGGGCTGCTGTCCTCAA...
Task1_train_34199
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
TTTTTTTTTTTTTGAGACGGTGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGGGCGATCTTGGGTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATTGTCTCTATCTCTTGACCTTGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCTTAGCCACCGCGCCCGGCCGCTTCTGCATATTTTTAAGCCAAGACCC...
TTTTTTTTTTTTTGAGACGGTGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGGGCGATCTTGGGTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATTGTCTCTATCTCTTGACCTTGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCTTAGCCACCGCGCCCGGCCGCTTCTGCATATTTTTAAGCCAAGACCC...