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_34300
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
ACTCACACCTTCAGAGTGGCCTTGAGAAAGATTTGGGGTCAAGGATCATGAGCGAGAACACCACTTAAGAGGATAGTGAACTAGTCTGCATGTGAGACGCTGAGATCCTATGTCAGGCTGTGATAGGAGGGAAACAGAAACCAAAGGAAAGAACAGCTTTAAGAAGCGCTTAAGAGGTACAAAGTAAAATGATGGTGCTAGAAAAGTAGCTTCTTAAAAAGAGCATTTTCCAGTCTCACCCTGGACTAACTGAATGAGAATCTCAGGAGTGTGAGGCCCAGGTATCCATGGTCTTAAAATGCCACCCACCAGGTGATTCC...
ACTCACACCTTCAGAGTGGCCTTGAGAAAGATTTGGGGTCAAGGATCATGAGCGAGAACACCACTTAAGAGGATAGTGAACTAGTCTGCATGTGAGACGCTGAGATCCTATGTCAGGCTGTGATAGGAGGGAAACAGAAACCAAAGGAAAGAACAGCTTTAAGAAGCGCTTAAGAGGTACAAAGTAAAATGATGGTGCTAGAAAAGTAGCTTCTTAAAAAGAGCATTTTCCAGTCTCACCCTGGACTAACTGAATGAGAATCTCAGGAGTGTGAGGCCCAGGTATCCATGGTCTTAAAATGCCACCCACCAGGTGATTCC...
Task1_train_34301
A sequence alteration has been identified on Chromosome 2. Is it disease-inducing or harmless?
Benign
AGAGTGGCCTTGAGAAAGATTTGGGGTCAAGGATCATGAGCGAGAACACCACTTAAGAGGATAGTGAACTAGTCTGCATGTGAGACGCTGAGATCCTATGTCAGGCTGTGATAGGAGGGAAACAGAAACCAAAGGAAAGAACAGCTTTAAGAAGCGCTTAAGAGGTACAAAGTAAAATGATGGTGCTAGAAAAGTAGCTTCTTAAAAAGAGCATTTTCCAGTCTCACCCTGGACTAACTGAATGAGAATCTCAGGAGTGTGAGGCCCAGGTATCCATGGTCTTAAAATGCCACCCACCAGGTGATTCCCAGTGTGCACCA...
AGAGTGGCCTTGAGAAAGATTTGGGGTCAAGGATCATGAGCGAGAACACCACTTAAGAGGATAGTGAACTAGTCTGCATGTGAGACGCTGAGATCCTATGTCAGGCTGTGATAGGAGGGAAACAGAAACCAAAGGAAAGAACAGCTTTAAGAAGCGCTTAAGAGGTACAAAGTAAAATGATGGTGCTAGAAAAGTAGCTTCTTAAAAAGAGCATTTTCCAGTCTCACCCTGGACTAACTGAATGAGAATCTCAGGAGTGTGAGGCCCAGGTATCCATGGTCTTAAAATGCCACCCACCAGGTGATTCCCAGTGTGCACCA...
Task1_train_34302
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GACTGCCTGGGATGGGCCCAGAAAAGCTCCTGAGGAGATTCTGATGTAAGGCAGGGCTGATAACCATGGATCTCATCTGACCCCATATCACTGGGGAGTTACTTAGGATCTTGCCTGGGGCCAGTCATCTCTTCCATAGACACTGAGAGTGTCCACGATGCTTGGGGCACTACAGGGTGGGAGGTGGAGGATCACGGGTGAGTCAGATAGGAAGCCTGCTCCTGGGGAGCTTACAGTGCTATAGGGCAGCGAGCCAAGGATGCCAATACCTGTGTGCAGGTACCACTGACGAGTGCAGAGCGCTGCAGCACCAGAGAGGA...
GACTGCCTGGGATGGGCCCAGAAAAGCTCCTGAGGAGATTCTGATGTAAGGCAGGGCTGATAACCATGGATCTCATCTGACCCCATATCACTGGGGAGTTACTTAGGATCTTGCCTGGGGCCAGTCATCTCTTCCATAGACACTGAGAGTGTCCACGATGCTTGGGGCACTACAGGGTGGGAGGTGGAGGATCACGGGTGAGTCAGATAGGAAGCCTGCTCCTGGGGAGCTTACAGTGCTATAGGGCAGCGAGCCAAGGATGCCAATACCTGTGTGCAGGTACCACTGACGAGTGCAGAGCGCTGCAGCACCAGAGAGGA...
Task1_train_34303
Given this variant on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
TCCATCACCGCTCCCTTAGCCTGGCCAGTGCAGGGATCTGTTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCT...
TCCATCACCGCTCCCTTAGCCTGGCCAGTGCAGGGATCTGTTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCT...
Task1_train_34304
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
TAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAATTGCTTGTCCCAGCAAGATAGAAAGCCTGGGAGTGGAAGAAATATTCAGTGGCTGTGATGTCTGAGCCCACAGGCAGGGTGGAGAGCTAGGGCTGGGGCCCTTGGACGTGGGGAAGAAAGGG...
TAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAATTGCTTGTCCCAGCAAGATAGAAAGCCTGGGAGTGGAAGAAATATTCAGTGGCTGTGATGTCTGAGCCCACAGGCAGGGTGGAGAGCTAGGGCTGGGGCCCTTGGACGTGGGGAAGAAAGGG...
Task1_train_34305
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
TCAGTCCTCTTCAACTAGGGCACAAAAAGATTAGTTTTTTCCTTGCAAAGTGATGTGGATGGTCTGCTGCTGCAGGTGCTATTTTCAATATTGTCTCACTTCTTAAAATGAGTTATCCATTGTAAACTGCTGATTTCTTTGGGTCATTGTCCCCACAAACTTTTTATAAGCCATCAATGATTTCACCATTCTTCCACCCAAGTTTCACCATAAATTTGATTTTTGTTCTTGCTTCAATTTTAGAAGAATTCATGTTGATCTTATAGGGGCTCTTTTCAAACTGATGTCTTACCTTTCTTAGTGCCTCAAACTAGATCCTG...
TCAGTCCTCTTCAACTAGGGCACAAAAAGATTAGTTTTTTCCTTGCAAAGTGATGTGGATGGTCTGCTGCTGCAGGTGCTATTTTCAATATTGTCTCACTTCTTAAAATGAGTTATCCATTGTAAACTGCTGATTTCTTTGGGTCATTGTCCCCACAAACTTTTTATAAGCCATCAATGATTTCACCATTCTTCCACCCAAGTTTCACCATAAATTTGATTTTTGTTCTTGCTTCAATTTTAGAAGAATTCATGTTGATCTTATAGGGGCTCTTTTCAAACTGATGTCTTACCTTTCTTAGTGCCTCAAACTAGATCCTG...
Task1_train_34306
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CTGCCCTTCTCTCCTCCCCATCAGTGAGGACCAGACACCACTGATTGCAGGAATGTGTTCCCTCCCCATGGCAAGATACTACATGTAAGTTGTCCTGGCATGTCCCTGCTTTCCAAGCCAGGGGGTCAGGGTGGGAAGAGGAAAGGAATGCTGAGTCAGAGGATGAGGCTCCTTCTCACCTTAGAAATTGCAAGTGCCCCATAATTAAGCTTCATCATCACCACAGTAGCAACAGCTCTTTCCTGAACGTCTGCAAGATGCCAGCCAATCTACTGCCTCATCTCTGTTCCAAAAAGTCTGTAAGTGGAGTGTTATTAAAC...
CTGCCCTTCTCTCCTCCCCATCAGTGAGGACCAGACACCACTGATTGCAGGAATGTGTTCCCTCCCCATGGCAAGATACTACATGTAAGTTGTCCTGGCATGTCCCTGCTTTCCAAGCCAGGGGGTCAGGGTGGGAAGAGGAAAGGAATGCTGAGTCAGAGGATGAGGCTCCTTCTCACCTTAGAAATTGCAAGTGCCCCATAATTAAGCTTCATCATCACCACAGTAGCAACAGCTCTTTCCTGAACGTCTGCAAGATGCCAGCCAATCTACTGCCTCATCTCTGTTCCAAAAAGTCTGTAAGTGGAGTGTTATTAAAC...
Task1_train_34307
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
CAGTGAGGACCAGACACCACTGATTGCAGGAATGTGTTCCCTCCCCATGGCAAGATACTACATGTAAGTTGTCCTGGCATGTCCCTGCTTTCCAAGCCAGGGGGTCAGGGTGGGAAGAGGAAAGGAATGCTGAGTCAGAGGATGAGGCTCCTTCTCACCTTAGAAATTGCAAGTGCCCCATAATTAAGCTTCATCATCACCACAGTAGCAACAGCTCTTTCCTGAACGTCTGCAAGATGCCAGCCAATCTACTGCCTCATCTCTGTTCCAAAAAGTCTGTAAGTGGAGTGTTATTAAACCCATTTTACAGATCTGGAAGC...
CAGTGAGGACCAGACACCACTGATTGCAGGAATGTGTTCCCTCCCCATGGCAAGATACTACATGTAAGTTGTCCTGGCATGTCCCTGCTTTCCAAGCCAGGGGGTCAGGGTGGGAAGAGGAAAGGAATGCTGAGTCAGAGGATGAGGCTCCTTCTCACCTTAGAAATTGCAAGTGCCCCATAATTAAGCTTCATCATCACCACAGTAGCAACAGCTCTTTCCTGAACGTCTGCAAGATGCCAGCCAATCTACTGCCTCATCTCTGTTCCAAAAAGTCTGTAAGTGGAGTGTTATTAAACCCATTTTACAGATCTGGAAGC...
Task1_train_34308
Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GGGCATAATATTCTTTCATGCTGCATTTTTATTAGATGGCACCTCAAAGTTTTCCCAAGTAGGTGGGTTTTAAATTATGAATATATACCGTGGCATAGTATCTTACTTAGTATTTTAATAAGATCCTTATTTATATAACAAATATTTTTTTTATTCCTCTGTAGTGCTACTTTAGTCTCTGAGCTAATTTTCATGAAGCCAATCTAAAAATCGTGTTACTTCTAAGGATGTGGAGCGAGTGAGATGAACAGTTGTGCTGTCATATTGCCCCTCCCCAGTGCAGACAGTGAATGAGGACCCACTGATTTAAAGGCAACACT...
GGGCATAATATTCTTTCATGCTGCATTTTTATTAGATGGCACCTCAAAGTTTTCCCAAGTAGGTGGGTTTTAAATTATGAATATATACCGTGGCATAGTATCTTACTTAGTATTTTAATAAGATCCTTATTTATATAACAAATATTTTTTTTATTCCTCTGTAGTGCTACTTTAGTCTCTGAGCTAATTTTCATGAAGCCAATCTAAAAATCGTGTTACTTCTAAGGATGTGGAGCGAGTGAGATGAACAGTTGTGCTGTCATATTGCCCCTCCCCAGTGCAGACAGTGAATGAGGACCCACTGATTTAAAGGCAACACT...
Task1_train_34309
A sequence alteration has been identified on Chromosome 2. Is it disease-inducing or harmless?
Benign
GATCATGAGGTCAGGACATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGGTCCGAGATTGTGTCACTGCACTCCAGCCTGGGCGACAGAGCGACAACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAGAATGAAGAGCCAGAGCCAGGCATAGTGGCACGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCG...
GATCATGAGGTCAGGACATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGGTCCGAGATTGTGTCACTGCACTCCAGCCTGGGCGACAGAGCGACAACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAGAATGAAGAGCCAGAGCCAGGCATAGTGGCACGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCG...
Task1_train_34310
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
AAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGGTCCGAGATTGTGTCACTGCACTCCAGCCTGGGCGACAGAGCGACAACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAGAATGAAGAGCCAGAGCCAGGCATAGTGGCACGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAAGCCAGCCTGTGCAACATAGACCCTGTCTCTAAA...
AAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGGTCCGAGATTGTGTCACTGCACTCCAGCCTGGGCGACAGAGCGACAACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAGAATGAAGAGCCAGAGCCAGGCATAGTGGCACGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAAGCCAGCCTGTGCAACATAGACCCTGTCTCTAAA...
Task1_train_34311
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
TACAGATAAAGGTCAATGTTTTATTAAAATTTGCACACTCACTATCTGGGAATTTTGTAAAAACAGATTTGTAGGCCCACACTGAGAGATTCTAATTCCAAGTCTGAATATAGGTTTCAGGTGGGGTCCATGAATGCGTTGCTCAGGTTCCAGGAGATGCTGATTGATGCTACGGTCCAAGAACAACACTTTGAATGGCACTGCCAATACTGTGTCAGGCTGTAAAGTTCAACATACGAGACCCAGCTAGAGAAATGGTAGGCTGGTAGGCTAAAAATTGAATAGATTAAGGCCGTTATTTTGAGGGAGAAACATGACAA...
TACAGATAAAGGTCAATGTTTTATTAAAATTTGCACACTCACTATCTGGGAATTTTGTAAAAACAGATTTGTAGGCCCACACTGAGAGATTCTAATTCCAAGTCTGAATATAGGTTTCAGGTGGGGTCCATGAATGCGTTGCTCAGGTTCCAGGAGATGCTGATTGATGCTACGGTCCAAGAACAACACTTTGAATGGCACTGCCAATACTGTGTCAGGCTGTAAAGTTCAACATACGAGACCCAGCTAGAGAAATGGTAGGCTGGTAGGCTAAAAATTGAATAGATTAAGGCCGTTATTTTGAGGGAGAAACATGACAA...
Task1_train_34312
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
AACAGACATTAATTGAAAAAAAATTCTGCAGGAGGCAATAGGTTTGTGAATTTTAGGAATATGTTTTGAAATACTCTTGTATTTCTAATTCCTATAGAATAATACTACAGCATTACTACTTTTCAGCGCATATGTAAGTAAATTTGAACAAAAGATGGTGTTTTATCTTTTTCAGTAAACAAACAGGGAACCTTTGGTAAGGACATTCTCAGGTACAGTCATGCATCGCATAACAGGAGGGGGGATACATTGTGAGAAATGTGTCATTAGGGGCTTTTGTCGTTTTGCGAACTTTATCTAGTTACACAAACCTAAATCTA...
AACAGACATTAATTGAAAAAAAATTCTGCAGGAGGCAATAGGTTTGTGAATTTTAGGAATATGTTTTGAAATACTCTTGTATTTCTAATTCCTATAGAATAATACTACAGCATTACTACTTTTCAGCGCATATGTAAGTAAATTTGAACAAAAGATGGTGTTTTATCTTTTTCAGTAAACAAACAGGGAACCTTTGGTAAGGACATTCTCAGGTACAGTCATGCATCGCATAACAGGAGGGGGGATACATTGTGAGAAATGTGTCATTAGGGGCTTTTGTCGTTTTGCGAACTTTATCTAGTTACACAAACCTAAATCTA...
Task1_train_34313
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
CTGAGAAAAGGAAAGCAAAGCTGGATGCTTCAACAGACATCAACATTTTAGGGGGACAGGGCTGGGGCAGGAGGGATGTGCAACAATGTCCTGTAAATCTGATTTTACTGATACCACATCTCAGCCACACCAGAATCAGTTATGTGCAAAATGATTAATCACCGTCTCCCTGAAATATTCAAGGTCTTCCTGCCTTTTCTTAGGATGGAAAAAAAAAAAAAAAGCAAACTCTGAAATATGATTTCAGGCTTTCCTTCATTCTATACTCTTTTAATAAAGTAGAACAAAAAATTCTGCCTCGGGTTTGGCTGAGTTATGGG...
CTGAGAAAAGGAAAGCAAAGCTGGATGCTTCAACAGACATCAACATTTTAGGGGGACAGGGCTGGGGCAGGAGGGATGTGCAACAATGTCCTGTAAATCTGATTTTACTGATACCACATCTCAGCCACACCAGAATCAGTTATGTGCAAAATGATTAATCACCGTCTCCCTGAAATATTCAAGGTCTTCCTGCCTTTTCTTAGGATGGAAAAAAAAAAAAAAAGCAAACTCTGAAATATGATTTCAGGCTTTCCTTCATTCTATACTCTTTTAATAAAGTAGAACAAAAAATTCTGCCTCGGGTTTGGCTGAGTTATGGG...
Task1_train_34314
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
AAGTGCCAATCTGAGCCTCTTTATAGTTTATGACCTTAAGAAAGTCATTTTTTAACCTTTCTGAATGTTGTCATTATTAGTCTCAAAGAGGAGAATGAGCTAAATATACTATCAGAATGTCCTAAGTACCCACTACTCCACCTGCCACAAACTTACCCTCTCCTTGCCAAAAAAGCTAAAAAAACAAAATAACATCTCTCTCCCACCCAAAAAAAACCCCCAAACCTAAAACCTTCAGGAAATGCCCACCCTAGCCGTAGAAATTAGCAGAAGTCAGCATGACCATACCAACAGGAACCAGGATTGGTATCAAGACACTG...
AAGTGCCAATCTGAGCCTCTTTATAGTTTATGACCTTAAGAAAGTCATTTTTTAACCTTTCTGAATGTTGTCATTATTAGTCTCAAAGAGGAGAATGAGCTAAATATACTATCAGAATGTCCTAAGTACCCACTACTCCACCTGCCACAAACTTACCCTCTCCTTGCCAAAAAAGCTAAAAAAACAAAATAACATCTCTCTCCCACCCAAAAAAAACCCCCAAACCTAAAACCTTCAGGAAATGCCCACCCTAGCCGTAGAAATTAGCAGAAGTCAGCATGACCATACCAACAGGAACCAGGATTGGTATCAAGACACTG...
Task1_train_34315
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
GTAGGCACATCACACAGCCTTGACAGAGGGCTCAGAGCAGGACTGTGCAACCACTAGCACTAAAACCAGGCAACCCCTTTTTCAGCCCAAATCATCTGGAACCCACATACATGAAACAGATCCACAAAGTAGGCTGTTGTGGTTCCATAGAGAGTGTGGAGTCCAGAGCCCATCTGCACTTTCTGCTTGGGCCCCACTGGCATCCTCAGGAAAAGCTTGTGTAATTCAGCAACTCACTTAGAGCCTCTCTATATACACCCACCTCCTCTCACTCCTCTCCTTCCCATCCTTTTCCACTTTGCCTCCTGGATCCCTCAATT...
GTAGGCACATCACACAGCCTTGACAGAGGGCTCAGAGCAGGACTGTGCAACCACTAGCACTAAAACCAGGCAACCCCTTTTTCAGCCCAAATCATCTGGAACCCACATACATGAAACAGATCCACAAAGTAGGCTGTTGTGGTTCCATAGAGAGTGTGGAGTCCAGAGCCCATCTGCACTTTCTGCTTGGGCCCCACTGGCATCCTCAGGAAAAGCTTGTGTAATTCAGCAACTCACTTAGAGCCTCTCTATATACACCCACCTCCTCTCACTCCTCTCCTTCCCATCCTTTTCCACTTTGCCTCCTGGATCCCTCAATT...
Task1_train_34316
A change on Chromosome 2 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GGTTGGGTGGTTGACCTCTGAGGATCCTTCCAAAGCTGGAACAACACAGTTCTCTTTATAGATGGGAAAGGGAGACCCAGACTTTCTCAAGGTGGTCCTGCCAGCCCCAGAGAAGGGGCCTCAGCCAGGTCTTTGCCCACTGAGTCTGAGTTATGCAGCTTCCCAACCACACTGTCACAAAGGCACGCATAGAATCCACACCCAGACTCAGGCTTGGAAACGCTGTGGTTGGCGAAGGGAAAGGCAGCAGTTTGAGTTCTTCAAAAATCAGGACTCAGGCCCACCCCTCCTCTTCCCAAATTTCCTCTCCCAAGATCATG...
GGTTGGGTGGTTGACCTCTGAGGATCCTTCCAAAGCTGGAACAACACAGTTCTCTTTATAGATGGGAAAGGGAGACCCAGACTTTCTCAAGGTGGTCCTGCCAGCCCCAGAGAAGGGGCCTCAGCCAGGTCTTTGCCCACTGAGTCTGAGTTATGCAGCTTCCCAACCACACTGTCACAAAGGCACGCATAGAATCCACACCCAGACTCAGGCTTGGAAACGCTGTGGTTGGCGAAGGGAAAGGCAGCAGTTTGAGTTCTTCAAAAATCAGGACTCAGGCCCACCCCTCCTCTTCCCAAATTTCCTCTCCCAAGATCATG...
Task1_train_34317
This genomic variant is located on Chromosome 2. Can you determine its pathogenicity and name any linked disease?
Benign
AGCCAGGCTGTTTCCCTCAGCGGCCCAAGTGACTTTCCAAGAGGAGGCAGTGAGCTCCCCGGAGGTCATCTTTGTGGCTGTGTTCCGGGAGCACTACTCTTCACTGTGCAGTCTCAGTGACCAGCTGGCGGGCAAGATCCTGGTGGATGTGAGCAACCCTACAGAGCAAGAGCACCTTCAGCATCGTGAGTCCAATGCTGAGTACCTGGCCTCCCTCTTCCCCACTTGCACAGTGGTCAAGGCCTTCAATGTCATCTCTGCCTGGACCCTGCAGGCTGGCCCAAGGGATGGTAACAGGCAGGTAGGTTCTGGGGGAATAA...
AGCCAGGCTGTTTCCCTCAGCGGCCCAAGTGACTTTCCAAGAGGAGGCAGTGAGCTCCCCGGAGGTCATCTTTGTGGCTGTGTTCCGGGAGCACTACTCTTCACTGTGCAGTCTCAGTGACCAGCTGGCGGGCAAGATCCTGGTGGATGTGAGCAACCCTACAGAGCAAGAGCACCTTCAGCATCGTGAGTCCAATGCTGAGTACCTGGCCTCCCTCTTCCCCACTTGCACAGTGGTCAAGGCCTTCAATGTCATCTCTGCCTGGACCCTGCAGGCTGGCCCAAGGGATGGTAACAGGCAGGTAGGTTCTGGGGGAATAA...
Task1_train_34318
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
TTTTTTCCAAATAACAGCTATCAGCACTCCACAAGCTGGGCGCTGTGGCATGTGGCTGGGATCCCAGCTACTAACAGAGGCTGAGGTGGGAGAATCACTTGAGCTTGAGCGATTCTTCCAGGAGTTAGAAGTTCAAGTGTCCAGCCTGGACATCATAGCAAGACCTTGCCTCTTAAAAAAAAAAAAATACTCCACAGAACATACTCTGGGAAATGCTGCTAGTGGCAAAAGTTTCTTTTTGCATTTGTTCATTCAACAAACATTTATTGAGCACTTACTGCAGGCCAGGCATCCTGCTAGGCCTGTGATGCAATAGAGAA...
TTTTTTCCAAATAACAGCTATCAGCACTCCACAAGCTGGGCGCTGTGGCATGTGGCTGGGATCCCAGCTACTAACAGAGGCTGAGGTGGGAGAATCACTTGAGCTTGAGCGATTCTTCCAGGAGTTAGAAGTTCAAGTGTCCAGCCTGGACATCATAGCAAGACCTTGCCTCTTAAAAAAAAAAAAATACTCCACAGAACATACTCTGGGAAATGCTGCTAGTGGCAAAAGTTTCTTTTTGCATTTGTTCATTCAACAAACATTTATTGAGCACTTACTGCAGGCCAGGCATCCTGCTAGGCCTGTGATGCAATAGAGAA...
Task1_train_34319
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GATACCGTTCTAACTCCTTAGCATGACTTGTAAGGCCTACCTCAACCTACCTTTCTGGCCTTATCTTCCTCTACTCTGTTCCATGTACTTTACACTCCTGTATAGATGCTCCTCAACTTACAATGGGGTTAGTCCCAATAAACTCATTGTTGGTTGAAAATATTATCTAAGTGAAAAATGCATTTAATACACCTAACCTATCAAACATTGCATTAGCTTAATCTACCTTACATATGCTCAGAACATTTACATTAGCCTAGAGTTGGGCAAAATCATCTACCACAAAGCTGATTTTATTGTAAAGTATTAAATATTTCATG...
GATACCGTTCTAACTCCTTAGCATGACTTGTAAGGCCTACCTCAACCTACCTTTCTGGCCTTATCTTCCTCTACTCTGTTCCATGTACTTTACACTCCTGTATAGATGCTCCTCAACTTACAATGGGGTTAGTCCCAATAAACTCATTGTTGGTTGAAAATATTATCTAAGTGAAAAATGCATTTAATACACCTAACCTATCAAACATTGCATTAGCTTAATCTACCTTACATATGCTCAGAACATTTACATTAGCCTAGAGTTGGGCAAAATCATCTACCACAAAGCTGATTTTATTGTAAAGTATTAAATATTTCATG...
Task1_train_34320
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TTAATCCTGTTCTATATATTTTGCTAATGAGCCTTTAAACTAGAAATCCTGCTGCTCTAATAGGTTTGGCAAACACACAATTAAACGGCTACATATTTTAGCAGAAAAAGAAATGTTTTGAAGAGAAGTTTTTGCCAGATTTTTCTCTCCAACAGAAAGGGGTGTGACCTGAGGAGTGGGTAAGAAAGGAGAAATGACAAACCAGCAGAGAGATGTATTACTGTCCCTTTCTGTGTTGAATAAGCTGCTTCCCTTGTTCTTGCTTCTTTCAAATAATCCTCATAATTATCACAAACAATACCTGTGGGCATTGTTTTCTT...
TTAATCCTGTTCTATATATTTTGCTAATGAGCCTTTAAACTAGAAATCCTGCTGCTCTAATAGGTTTGGCAAACACACAATTAAACGGCTACATATTTTAGCAGAAAAAGAAATGTTTTGAAGAGAAGTTTTTGCCAGATTTTTCTCTCCAACAGAAAGGGGTGTGACCTGAGGAGTGGGTAAGAAAGGAGAAATGACAAACCAGCAGAGAGATGTATTACTGTCCCTTTCTGTGTTGAATAAGCTGCTTCCCTTGTTCTTGCTTCTTTCAAATAATCCTCATAATTATCACAAACAATACCTGTGGGCATTGTTTTCTT...
Task1_train_34321
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
ATTATGCTCAGACTGAAAACCCTAGATTTGTTCCCTATTGCATCTTCATTTCTTCCCAAACATTCCATAAAACGTGACCTACATTAAGTTAGCAAGTTAAGTCTGAAAGCGTCTACCTTCCCTGGGGAGGGGGAAGGTGTAGGCAGGGCAGAGATTTGTAGTCCAGCCCTCTTGCCACAAATTATGAATTAGAGAGGAATGACTTTGCTTTTTTAATGATCTCCAGAGAATTTTCCATCATTTCCCTCTCTTCACCCAGCTCCTTTGCAACCACTGCCAGAGAAGTCTTCCTTTAGCTTCTTAAACATCGATCCTAAAAC...
ATTATGCTCAGACTGAAAACCCTAGATTTGTTCCCTATTGCATCTTCATTTCTTCCCAAACATTCCATAAAACGTGACCTACATTAAGTTAGCAAGTTAAGTCTGAAAGCGTCTACCTTCCCTGGGGAGGGGGAAGGTGTAGGCAGGGCAGAGATTTGTAGTCCAGCCCTCTTGCCACAAATTATGAATTAGAGAGGAATGACTTTGCTTTTTTAATGATCTCCAGAGAATTTTCCATCATTTCCCTCTCTTCACCCAGCTCCTTTGCAACCACTGCCAGAGAAGTCTTCCTTTAGCTTCTTAAACATCGATCCTAAAAC...
Task1_train_34322
A change on Chromosome 2 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
AATTCTGATAACTCAAGCACTGATAGCAAATTATCACTGTCATGATCAGACTAGGATCACTGCCAGCCTGCTTGTGATTGCAGGAAATGGTTTATTACACATGAGACTACAGCATCTTTCACACCATATATACTCAAAAATAAGTATTTGTTGATTACGGTTTCTATTTTTTCTTTTATAAACACATACTATATTGATAGTTTAAGTATATTTTTACAAGTAAGTAATCAATTAGTGGAACCCTAAATATGTGAGGCAAATAAGACCTGCCCACATGCAATGATACTTGACAATACCTGAGCTTCTAGAGCTTGGACTTC...
AATTCTGATAACTCAAGCACTGATAGCAAATTATCACTGTCATGATCAGACTAGGATCACTGCCAGCCTGCTTGTGATTGCAGGAAATGGTTTATTACACATGAGACTACAGCATCTTTCACACCATATATACTCAAAAATAAGTATTTGTTGATTACGGTTTCTATTTTTTCTTTTATAAACACATACTATATTGATAGTTTAAGTATATTTTTACAAGTAAGTAATCAATTAGTGGAACCCTAAATATGTGAGGCAAATAAGACCTGCCCACATGCAATGATACTTGACAATACCTGAGCTTCTAGAGCTTGGACTTC...
Task1_train_34323
A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
GACAGGAATACAGTAAGTTTCAATCAAAGTGAAATAATTGTGAATTTTTACTGACGTATTCACGGATGAAGTGATAGGATGCCCGGGGATGTTTCAAAATAAACCAGTTGGACGGAAGTGTGGTGGAAAGAGAAATCAAACAAGATTGGCCATGAGTTGATGGGATTGAAGTTGATGGATGTACTATTTTGTCTACTTTGGTATATGCTTGTAATTTGGCATAACAAGTTTTCTAAAACAAAAAGTTTGCTGTGGACACCTGACTATGCCTGTGTTAGCTTGCTAGAGCTGCCATGCCGAAGTACCGGAGACTGGGTGGC...
GACAGGAATACAGTAAGTTTCAATCAAAGTGAAATAATTGTGAATTTTTACTGACGTATTCACGGATGAAGTGATAGGATGCCCGGGGATGTTTCAAAATAAACCAGTTGGACGGAAGTGTGGTGGAAAGAGAAATCAAACAAGATTGGCCATGAGTTGATGGGATTGAAGTTGATGGATGTACTATTTTGTCTACTTTGGTATATGCTTGTAATTTGGCATAACAAGTTTTCTAAAACAAAAAGTTTGCTGTGGACACCTGACTATGCCTGTGTTAGCTTGCTAGAGCTGCCATGCCGAAGTACCGGAGACTGGGTGGC...
Task1_train_34324
A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
CGGAATGCCTTTTGGGATTTTTTTGTCTTTTCTTTTATGGCCTGATGTGGTGCTCTAAGGCTCACTTTTAGTCCTGTGCAGGTCTTTAGAATATGAGATGTATTGGTTTGCTAGGACTACTGTTACAAGGTACCACAAACTGAACTTTGTCTCAGTAAGATGTTAGAAGTCGAAGGGCAAGGTGTTGGCAGGGTTGCTTTCTTTGAGGACTCTGAGAAAGACTCTATTCTGTGCCTCTGTCCTAGCTTCTGGTGGTTTGCTGGCAGTCTTTGGTGTTTCTTGGTTTGTAGATGCATCACCCTGATATCTGCCTTTGTCTT...
CGGAATGCCTTTTGGGATTTTTTTGTCTTTTCTTTTATGGCCTGATGTGGTGCTCTAAGGCTCACTTTTAGTCCTGTGCAGGTCTTTAGAATATGAGATGTATTGGTTTGCTAGGACTACTGTTACAAGGTACCACAAACTGAACTTTGTCTCAGTAAGATGTTAGAAGTCGAAGGGCAAGGTGTTGGCAGGGTTGCTTTCTTTGAGGACTCTGAGAAAGACTCTATTCTGTGCCTCTGTCCTAGCTTCTGGTGGTTTGCTGGCAGTCTTTGGTGTTTCTTGGTTTGTAGATGCATCACCCTGATATCTGCCTTTGTCTT...
Task1_train_34325
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
AAGATAATTTGAACAGTTGTTTCCCTATTGCTGACAGATTAAAGTTTGGCCCTTAAAATGACACCTGCTTCTACTGACCACTTCCGGTTAAGGCCACTCTCTCCATCTTTCCAATGACAAGTAATGCTTCACACTACAGCCAACTAATAGTTTAAGATTCTTAGAAATGGACAAACCACTTGTTGCTTATTTCCACACAGTTACTACCTGTGTGGAAAAATTCAAGTTGCTAAATAACAGTGTCACTTTATGGCCTGGTACCACACTAGAGCCTGTCACAAGTTCCCAAGGGCAGTGGCCTCTTCCTCTACTAACGGGTA...
AAGATAATTTGAACAGTTGTTTCCCTATTGCTGACAGATTAAAGTTTGGCCCTTAAAATGACACCTGCTTCTACTGACCACTTCCGGTTAAGGCCACTCTCTCCATCTTTCCAATGACAAGTAATGCTTCACACTACAGCCAACTAATAGTTTAAGATTCTTAGAAATGGACAAACCACTTGTTGCTTATTTCCACACAGTTACTACCTGTGTGGAAAAATTCAAGTTGCTAAATAACAGTGTCACTTTATGGCCTGGTACCACACTAGAGCCTGTCACAAGTTCCCAAGGGCAGTGGCCTCTTCCTCTACTAACGGGTA...
Task1_train_34326
A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
CTCGAGTGTCTGAGCGCTTGCCTGTGTCAGTGGAGCCCTTCGCGGTTCCAGAGCAGCCACTGCATGGAGGGGAGCCTCATCGATGAGCTCACTGCATGCAAACAGTAGCTGGGCCAGGTCCTGCTGTCTGCATAGATGCCCTGCCCCCCATGTAACACAGTTGCCACCCGACTACTGTCAGAAGGATCAGGATTCTGAACTTAAGGAGTTCTGTCCTCGCCACTAGGAGGGACGGGGTCCTTCTGGCAAGGGTCCCATCAGGAAAGAGTTGGAGGCTCCATTCCACCAGCCTCCAGCATGGTCTAGTTCTCCCCCGAGGC...
CTCGAGTGTCTGAGCGCTTGCCTGTGTCAGTGGAGCCCTTCGCGGTTCCAGAGCAGCCACTGCATGGAGGGGAGCCTCATCGATGAGCTCACTGCATGCAAACAGTAGCTGGGCCAGGTCCTGCTGTCTGCATAGATGCCCTGCCCCCCATGTAACACAGTTGCCACCCGACTACTGTCAGAAGGATCAGGATTCTGAACTTAAGGAGTTCTGTCCTCGCCACTAGGAGGGACGGGGTCCTTCTGGCAAGGGTCCCATCAGGAAAGAGTTGGAGGCTCCATTCCACCAGCCTCCAGCATGGTCTAGTTCTCCCCCGAGGC...
Task1_train_34327
This alteration occurs on Chromosome 2. Is it associated with a disease or is it a benign variant?
Benign
GCCTTGAACTCTCAGCCCCCTACAGGGATGTCCTGGGTTGCAGACAGATGCCCCACCCAAGGTCACCCCTTCCCAGCAGCCCCGCATGCAATGACTGGTCACTGCAGGAGTGTAAAGGCCCAGCCATCAAGATGAGGCTCAGAGAGGTGCCCAACTCAGGGCAGCACTGAAGAGCCATTGGGGGTCCTGGGCTCCCTGTGAGATCATCCTGGGCTCACGTCTCCTCTGCCCACTCTTGCAGCCTGTCTTTCCTTCCATGGGTATGGACCTCAGGGTACTCCCTGTAATAACCTGCTCCTTAAACTCCATCTCAGGGACGC...
GCCTTGAACTCTCAGCCCCCTACAGGGATGTCCTGGGTTGCAGACAGATGCCCCACCCAAGGTCACCCCTTCCCAGCAGCCCCGCATGCAATGACTGGTCACTGCAGGAGTGTAAAGGCCCAGCCATCAAGATGAGGCTCAGAGAGGTGCCCAACTCAGGGCAGCACTGAAGAGCCATTGGGGGTCCTGGGCTCCCTGTGAGATCATCCTGGGCTCACGTCTCCTCTGCCCACTCTTGCAGCCTGTCTTTCCTTCCATGGGTATGGACCTCAGGGTACTCCCTGTAATAACCTGCTCCTTAAACTCCATCTCAGGGACGC...
Task1_train_34328
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
AAACTGAGGGCCAGAGAAAGGAGAATTCAAGGCCAGACAGATAATGGTAAAGTGAAGATAGGGACTTAGGCCTCCTGGCTTCCCCTCGCCCACCCTTAGCAATAAGTGCCACCATTTGTTTACATATTGCTTTTTCCTTCCCCTTTTTAATTGAAAAACCATCTGCTCACTGGGCACGGTGGCCCACGTATGCCCTAGCTACTCCAGAGTCTGAGGAGGGAGGATCCCTTGAGCCCAGGAGTTCAAGGCCAGCCTGGGAAATCCTGTCTCTAAAAAGAGAAAGAGAGAAAGAAAGCATGCATCTCCTGAGTGCGCTGTGT...
AAACTGAGGGCCAGAGAAAGGAGAATTCAAGGCCAGACAGATAATGGTAAAGTGAAGATAGGGACTTAGGCCTCCTGGCTTCCCCTCGCCCACCCTTAGCAATAAGTGCCACCATTTGTTTACATATTGCTTTTTCCTTCCCCTTTTTAATTGAAAAACCATCTGCTCACTGGGCACGGTGGCCCACGTATGCCCTAGCTACTCCAGAGTCTGAGGAGGGAGGATCCCTTGAGCCCAGGAGTTCAAGGCCAGCCTGGGAAATCCTGTCTCTAAAAAGAGAAAGAGAGAAAGAAAGCATGCATCTCCTGAGTGCGCTGTGT...
Task1_train_34329
This alteration occurs on Chromosome 2. Is it associated with a disease or is it a benign variant?
Benign
ACTTTATTGCCCAGGCTGGAGTGCAGTGGTGCAATGCCAGCTCACTGCAACCTCCGCCCTCTAGGTTCAAGCGATTCTCCTGCCTCAGTTTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAGTGATCCACCTCCCTTTGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCAACTATTTCTTCTAGTAAACCTCAATGCCACATCCCTCCCCCTACACA...
ACTTTATTGCCCAGGCTGGAGTGCAGTGGTGCAATGCCAGCTCACTGCAACCTCCGCCCTCTAGGTTCAAGCGATTCTCCTGCCTCAGTTTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAGTGATCCACCTCCCTTTGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCAACTATTTCTTCTAGTAAACCTCAATGCCACATCCCTCCCCCTACACA...
Task1_train_34330
A variant affecting Chromosome 2 has been observed. Determine if it's benign or associated with disease.
Benign
GCAGATCCTCTGGGTGACCCCAGGGCCACCCACAGAACTTTCTCAAAGTATTCACTCCTTGTTCCTAGAGGATAATAATTTTCTCAAACCCTGGTACCTTGGTGAGGCACAGCCAGGAGATCAGGGATTGGATGTGGCCTCTTTACCTGACCTGGGATCTTACTCCCTTGACTTCCCTTTGACCTGTATCTCATCCTCAGATCGTGACCATTTGGAAGAAGAAACAGCCAAATTCTTCACTCAAGTACACCAAGCCATTAAAACGTTACGAGATGGTGAGGAAGCCAAGAGCCCCAGGGCCTTGGGGCTTGGGTTGACAA...
GCAGATCCTCTGGGTGACCCCAGGGCCACCCACAGAACTTTCTCAAAGTATTCACTCCTTGTTCCTAGAGGATAATAATTTTCTCAAACCCTGGTACCTTGGTGAGGCACAGCCAGGAGATCAGGGATTGGATGTGGCCTCTTTACCTGACCTGGGATCTTACTCCCTTGACTTCCCTTTGACCTGTATCTCATCCTCAGATCGTGACCATTTGGAAGAAGAAACAGCCAAATTCTTCACTCAAGTACACCAAGCCATTAAAACGTTACGAGATGGTGAGGAAGCCAAGAGCCCCAGGGCCTTGGGGCTTGGGTTGACAA...
Task1_train_34331
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GGGCAGCCTGCCAAGCCGTGGCACCCCCAACCCCCAGCACTGGGCACTTGGGAGCATTGCAGCCGCCCTGGCTCGTACCGGTGCCGGTGCTTTGGGCACCTGGGCTGGTTTGGACATGGGTGCCCCGGGCAGAGTCCATTTATGCAGGTCAGAATCAGTGTGTGGAGCCTGCATAGACTTGCCCTGGAGCGGCTGCCTGTGCTGGGGTGGGGAGGAGTAGAGGGCGAGAAGTTGGTGGGGAAGGGAAGCGGCGCCAAAAGAATACCCACAACATCTTGCACCTGGAAGGCAAAGCAGAGGGCAGTGATCTCTGCAGACTT...
GGGCAGCCTGCCAAGCCGTGGCACCCCCAACCCCCAGCACTGGGCACTTGGGAGCATTGCAGCCGCCCTGGCTCGTACCGGTGCCGGTGCTTTGGGCACCTGGGCTGGTTTGGACATGGGTGCCCCGGGCAGAGTCCATTTATGCAGGTCAGAATCAGTGTGTGGAGCCTGCATAGACTTGCCCTGGAGCGGCTGCCTGTGCTGGGGTGGGGAGGAGTAGAGGGCGAGAAGTTGGTGGGGAAGGGAAGCGGCGCCAAAAGAATACCCACAACATCTTGCACCTGGAAGGCAAAGCAGAGGGCAGTGATCTCTGCAGACTT...
Task1_train_34332
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
AGCCTGCATAGACTTGCCCTGGAGCGGCTGCCTGTGCTGGGGTGGGGAGGAGTAGAGGGCGAGAAGTTGGTGGGGAAGGGAAGCGGCGCCAAAAGAATACCCACAACATCTTGCACCTGGAAGGCAAAGCAGAGGGCAGTGATCTCTGCAGACTTGCGGGGGCGACGCCTGAAGCAAACAGGGACATACAAGCTGGTGCCTTCTGTGGTTGTGCATGGGGTCTTCATGCTTCCTGTCTGAGTTCCCAGAAGCTTGTCTCTGCTTTTCTAGGCAGCTGCCACAGCCTGTCACAAACAGCTCCTGGTTCTCCACTTCTCATA...
AGCCTGCATAGACTTGCCCTGGAGCGGCTGCCTGTGCTGGGGTGGGGAGGAGTAGAGGGCGAGAAGTTGGTGGGGAAGGGAAGCGGCGCCAAAAGAATACCCACAACATCTTGCACCTGGAAGGCAAAGCAGAGGGCAGTGATCTCTGCAGACTTGCGGGGGCGACGCCTGAAGCAAACAGGGACATACAAGCTGGTGCCTTCTGTGGTTGTGCATGGGGTCTTCATGCTTCCTGTCTGAGTTCCCAGAAGCTTGTCTCTGCTTTTCTAGGCAGCTGCCACAGCCTGTCACAAACAGCTCCTGGTTCTCCACTTCTCATA...
Task1_train_34333
This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Benign
AAGGCCTTATCTGCAAATATGGTCATGTCAGGAATTGGGGCTTCACTATATGAATTCTGGAGGGACACAATTCAGTCCATATAATGAGGTTTACTTGTATTTTTGCCCATCTTCTATAGCGATCTTCTTCCTAATTCTAATTTTATTTTATTTTTTATTTATGTATTCTTTTTTGACAGAGTCTCTGTCAGCAAAGCTGGAGTGCAGTGGCACGATCACAATTCACTGCAACCTCCACCTCTCAGATTCAAGCAATTATCCTGCATCAGCCTCCTGATTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTT...
AAGGCCTTATCTGCAAATATGGTCATGTCAGGAATTGGGGCTTCACTATATGAATTCTGGAGGGACACAATTCAGTCCATATAATGAGGTTTACTTGTATTTTTGCCCATCTTCTATAGCGATCTTCTTCCTAATTCTAATTTTATTTTATTTTTTATTTATGTATTCTTTTTTGACAGAGTCTCTGTCAGCAAAGCTGGAGTGCAGTGGCACGATCACAATTCACTGCAACCTCCACCTCTCAGATTCAAGCAATTATCCTGCATCAGCCTCCTGATTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTT...
Task1_train_34334
This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
AGGGGCTGCATTCAGGGAGGGAGGTGGGGCCTCAAGGCAGAGAGAGAAATGACTGTAATCACCGTGAGACTGGGGATCCCGCACATCTGGGAGCAGATGGGCTGTGCAAAGGGCGCGGCTGCTGAGGACAGGGCTGTGGCTGGAGAACCTGCTGCTTCCTGAAGCCGAGCCCCACCCTAAAGGACCGAGAGCACAGGCCATGGGAGAGGAATCGAGTAGGGATGCAGAGCCTGGTGGCACTGTCCTGAGAGAGGAGGAGGCTGGGCAGGGCCCCGGCGCTGGAGAGGTGCCCTGCATATGGGACCTCTCAGAGGTGCACA...
AGGGGCTGCATTCAGGGAGGGAGGTGGGGCCTCAAGGCAGAGAGAGAAATGACTGTAATCACCGTGAGACTGGGGATCCCGCACATCTGGGAGCAGATGGGCTGTGCAAAGGGCGCGGCTGCTGAGGACAGGGCTGTGGCTGGAGAACCTGCTGCTTCCTGAAGCCGAGCCCCACCCTAAAGGACCGAGAGCACAGGCCATGGGAGAGGAATCGAGTAGGGATGCAGAGCCTGGTGGCACTGTCCTGAGAGAGGAGGAGGCTGGGCAGGGCCCCGGCGCTGGAGAGGTGCCCTGCATATGGGACCTCTCAGAGGTGCACA...
Task1_train_34335
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
CCCAGAACTGGAGAGCAGCCGTTGTCCTCAGGCAGAGGGCCTGTGAGGCTCTGGCCAAGGCCTCTGGGATTCCCAGCCTGCATGGTGGCCCAGTCAGGGCATGCAGGGAGGGGGAAGGTCCTGCCCGAGCCACAGGTTAGCTCCCCTGTGATGGGGCAAGAGCCCGGCCACGGGACAGGGGCATCCTGGGGAAGGGGGGAGCTCTCACTTGTCTCACTCGCCCCCGTGGGTGCCCTGGGCTGTGCAGGAGGAAGAGCTGGTTGAGCTGCTGGCCCGGCACTGCTACGTGCAGCTCGGCGCCTCAGCAGAGAGCAAGGCTG...
CCCAGAACTGGAGAGCAGCCGTTGTCCTCAGGCAGAGGGCCTGTGAGGCTCTGGCCAAGGCCTCTGGGATTCCCAGCCTGCATGGTGGCCCAGTCAGGGCATGCAGGGAGGGGGAAGGTCCTGCCCGAGCCACAGGTTAGCTCCCCTGTGATGGGGCAAGAGCCCGGCCACGGGACAGGGGCATCCTGGGGAAGGGGGGAGCTCTCACTTGTCTCACTCGCCCCCGTGGGTGCCCTGGGCTGTGCAGGAGGAAGAGCTGGTTGAGCTGCTGGCCCGGCACTGCTACGTGCAGCTCGGCGCCTCAGCAGAGAGCAAGGCTG...
Task1_train_34336
This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Benign
CCACCGCAGGAGGGAAAGAGGATTGCCATCTCCAAATTCCAGATAAGGAAGGGGTCTAGAGAGGCAGGCAGCACTCAGGCCAGGCGTGGGGACTGCCAGCCTGTGCATCCTCCCCTCCCTCATCCCTGGCTCCTGGTCAGCCCTCCGAGGGTCTCCCAGGGCTAGGGCTGCAGTCAGAGCTCTCGAGCCCCCACCCACCCTGGGCTCTGTGCCTGTGCAGCTGCAGCAGGTGACAGCCGTCTGAGGCCCCTGAGGTTCCAGTCCCACCATCGCTCACTCTTGGAGTGGTCTTCTGCCCACCACTCTATGCCTCGGTTTCA...
CCACCGCAGGAGGGAAAGAGGATTGCCATCTCCAAATTCCAGATAAGGAAGGGGTCTAGAGAGGCAGGCAGCACTCAGGCCAGGCGTGGGGACTGCCAGCCTGTGCATCCTCCCCTCCCTCATCCCTGGCTCCTGGTCAGCCCTCCGAGGGTCTCCCAGGGCTAGGGCTGCAGTCAGAGCTCTCGAGCCCCCACCCACCCTGGGCTCTGTGCCTGTGCAGCTGCAGCAGGTGACAGCCGTCTGAGGCCCCTGAGGTTCCAGTCCCACCATCGCTCACTCTTGGAGTGGTCTTCTGCCCACCACTCTATGCCTCGGTTTCA...
Task1_train_34337
A mutation on Chromosome 2 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TGGGTACCAGCCCATGTGGTAGGCAGACCAAGCCCCTGAGGGCTCTGGAACCAGGAGCAGAGGGCAGCAATGTTTGGGGACAGTGACTGCACTGGCACCTGCAGCATGACTTGGAGAGGGTGGGACAGAGGGTCCTGTGACCCATGGAGCAGTGGCCGTGGCCTGCAGGGCCAACCACATGGGTGGAGCAGGCCATCACCTCCACGCAGATGTCAGGGGGCCCTGCCCTGACTCAGGGTCATTCCCCTGGCCTGAAACTCTCTACCCTGCTCAGTCCGTCCTGGATGGAGTGGGCTAAGCCCCAGTTCCCCACCATCTGA...
TGGGTACCAGCCCATGTGGTAGGCAGACCAAGCCCCTGAGGGCTCTGGAACCAGGAGCAGAGGGCAGCAATGTTTGGGGACAGTGACTGCACTGGCACCTGCAGCATGACTTGGAGAGGGTGGGACAGAGGGTCCTGTGACCCATGGAGCAGTGGCCGTGGCCTGCAGGGCCAACCACATGGGTGGAGCAGGCCATCACCTCCACGCAGATGTCAGGGGGCCCTGCCCTGACTCAGGGTCATTCCCCTGGCCTGAAACTCTCTACCCTGCTCAGTCCGTCCTGGATGGAGTGGGCTAAGCCCCAGTTCCCCACCATCTGA...
Task1_train_34338
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
TCTACTTCCTCACCTGCATCAGCGCCGACCGTTTCCTGGCCATTGTGCACCCGGTCAAGTCCCTCAAGCTCCGCAGGCCCCTCTACGCACACCTGGCCTGTGCCTTCCTGTGGGTGGTGGTGGCTGTGGCCATGGCCCCGCTGCTGGTGAGCCCACAGACCGTGCAGACCAACCACACGGTGGTCTGCCTGCAGCTGTACCGGGAGAAGGCCTCCCACCATGCCCTGGTGTCCCTGGCAGTGGCCTTCACCTTCCCGTTCATCACCACGGTCACCTGCTACCTGCTGATCATCCGCAGCCTGCGGCAGGGCCTGCGTGTG...
TCTACTTCCTCACCTGCATCAGCGCCGACCGTTTCCTGGCCATTGTGCACCCGGTCAAGTCCCTCAAGCTCCGCAGGCCCCTCTACGCACACCTGGCCTGTGCCTTCCTGTGGGTGGTGGTGGCTGTGGCCATGGCCCCGCTGCTGGTGAGCCCACAGACCGTGCAGACCAACCACACGGTGGTCTGCCTGCAGCTGTACCGGGAGAAGGCCTCCCACCATGCCCTGGTGTCCCTGGCAGTGGCCTTCACCTTCCCGTTCATCACCACGGTCACCTGCTACCTGCTGATCATCCGCAGCCTGCGGCAGGGCCTGCGTGTG...
Task1_train_34339
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
CCTCTACGCACACCTGGCCTGTGCCTTCCTGTGGGTGGTGGTGGCTGTGGCCATGGCCCCGCTGCTGGTGAGCCCACAGACCGTGCAGACCAACCACACGGTGGTCTGCCTGCAGCTGTACCGGGAGAAGGCCTCCCACCATGCCCTGGTGTCCCTGGCAGTGGCCTTCACCTTCCCGTTCATCACCACGGTCACCTGCTACCTGCTGATCATCCGCAGCCTGCGGCAGGGCCTGCGTGTGGAGAAGCGCCTCAAGACCAAGGCAGTGCGCATGATCGCCATAGTGCTGGCCATCTTCCTGGTCTGCTTCGTGCCCTACC...
CCTCTACGCACACCTGGCCTGTGCCTTCCTGTGGGTGGTGGTGGCTGTGGCCATGGCCCCGCTGCTGGTGAGCCCACAGACCGTGCAGACCAACCACACGGTGGTCTGCCTGCAGCTGTACCGGGAGAAGGCCTCCCACCATGCCCTGGTGTCCCTGGCAGTGGCCTTCACCTTCCCGTTCATCACCACGGTCACCTGCTACCTGCTGATCATCCGCAGCCTGCGGCAGGGCCTGCGTGTGGAGAAGCGCCTCAAGACCAAGGCAGTGCGCATGATCGCCATAGTGCTGGCCATCTTCCTGGTCTGCTTCGTGCCCTACC...
Task1_train_34340
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TCTCAGCTTCCCTCACCTATAAAATGAGCAGCACACTCCTGCCTTTTCTATACGGTAGCTGCATAAATGATTAGGTAACATCACTGATGGGCATTTATGCACCCAGTCCACTTTCTAGCTCTGTGTATTTGACTACTCTAAGTACCTCACAGAAGTGGAATCATGCAGTATTGGTCCTTTTTGTGACTGGCTTATTTCCCTCAGCCTAATGTCCTCAAGGTTCATCCATGTCGTAGCATGTGTCAGAATCTCCTTCCTTTTTAAGGCTGCGTAACAGTCCGTTGTATGCATATATCACATTTTATTGATCTGCTGGTGGA...
TCTCAGCTTCCCTCACCTATAAAATGAGCAGCACACTCCTGCCTTTTCTATACGGTAGCTGCATAAATGATTAGGTAACATCACTGATGGGCATTTATGCACCCAGTCCACTTTCTAGCTCTGTGTATTTGACTACTCTAAGTACCTCACAGAAGTGGAATCATGCAGTATTGGTCCTTTTTGTGACTGGCTTATTTCCCTCAGCCTAATGTCCTCAAGGTTCATCCATGTCGTAGCATGTGTCAGAATCTCCTTCCTTTTTAAGGCTGCGTAACAGTCCGTTGTATGCATATATCACATTTTATTGATCTGCTGGTGGA...
Task1_train_34341
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
TCTCTCTTTAAGCTATACCAGTTGGGGGTGAGTGAAGAAATACCCATAACCTAAAGCAATCTTGAGCCTCCTAATAGCATGTTTATGGTGGAGCGCTGATTAAATAAGCTGTAATTTCAAAGTTAAAAAAAAAATAGTCTCTAGATTCTAACACTGAAAAGCAGTGTATATGGCTGACATTTTCTCACTCCACAGAAATCAATTAGCTTTTGCTGTTTTTTACATTCATAGAGAACCAGTTAAATTTTCATATCCTGTTAAACTATATCAGTATGCCTTTTCTAAGCAACCATTGAAACTTCCAGCACCAGCGGCCAGGT...
TCTCTCTTTAAGCTATACCAGTTGGGGGTGAGTGAAGAAATACCCATAACCTAAAGCAATCTTGAGCCTCCTAATAGCATGTTTATGGTGGAGCGCTGATTAAATAAGCTGTAATTTCAAAGTTAAAAAAAAAATAGTCTCTAGATTCTAACACTGAAAAGCAGTGTATATGGCTGACATTTTCTCACTCCACAGAAATCAATTAGCTTTTGCTGTTTTTTACATTCATAGAGAACCAGTTAAATTTTCATATCCTGTTAAACTATATCAGTATGCCTTTTCTAAGCAACCATTGAAACTTCCAGCACCAGCGGCCAGGT...
Task1_train_34342
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
CCTGTTGACAACTTTTATGTAAAATTAGATCTTTACTCGTAATGCCAAAAAAGAACATCAATGGAAAGTCAGAAATTCTAACACAGCAGCACTAAATTAAACCAATTAAAACAACTGGTTTAAGTAACTGGTCTGGTTAAAGTGAAGCAACTTAGATTTCAGCATATGAGAAATAAGAGCACAGATTTTCATCAGGCAACTTCTGAGATCTGAAATGCCCTACAAAGTATCAGATCTTCAGACTCATTCTACCAGTATTTCTATAGGTCAATTAAAATTTCAGAATCATGCTTCCCATGTATAAAATCTTTTACTACATG...
CCTGTTGACAACTTTTATGTAAAATTAGATCTTTACTCGTAATGCCAAAAAAGAACATCAATGGAAAGTCAGAAATTCTAACACAGCAGCACTAAATTAAACCAATTAAAACAACTGGTTTAAGTAACTGGTCTGGTTAAAGTGAAGCAACTTAGATTTCAGCATATGAGAAATAAGAGCACAGATTTTCATCAGGCAACTTCTGAGATCTGAAATGCCCTACAAAGTATCAGATCTTCAGACTCATTCTACCAGTATTTCTATAGGTCAATTAAAATTTCAGAATCATGCTTCCCATGTATAAAATCTTTTACTACATG...
Task1_train_34343
A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
CCATGTAGTACAAATGTGGTGTACTGAAAAACCAACTGCTTTCAAAAATAGTAACACTAAGAAGTGTAGCTTTGATACCTCTATCTTGTCGGTTAATTCATATTGTAAAAGGACTGCCAGGAGAATGACGGCTATCTAAATCAAACCACAGTGTCAATATGTTGGGAACAAGTACCCTGGCTACAAGGAAGGAAAAGGAATACAGCCCTAAAAGATGCATACAGATAAGCAAGTAAGGGGGAGGCACTCTTGTATTTAATTTACAGCTGAAAAATTCAAAGATAACACTGGTAGTAAAAACCTACAAAATGACTGTGAGT...
CCATGTAGTACAAATGTGGTGTACTGAAAAACCAACTGCTTTCAAAAATAGTAACACTAAGAAGTGTAGCTTTGATACCTCTATCTTGTCGGTTAATTCATATTGTAAAAGGACTGCCAGGAGAATGACGGCTATCTAAATCAAACCACAGTGTCAATATGTTGGGAACAAGTACCCTGGCTACAAGGAAGGAAAAGGAATACAGCCCTAAAAGATGCATACAGATAAGCAAGTAAGGGGGAGGCACTCTTGTATTTAATTTACAGCTGAAAAATTCAAAGATAACACTGGTAGTAAAAACCTACAAAATGACTGTGAGT...
Task1_train_34344
With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
GGTAGGGAGGCGTCTGTTGGTATTGGTCAGTGACCAACTCTGGGAGCCTACTGCTCTGACTGGTGGAAGGGTGGGTGGGGGCATGGCTGTGGTCCCAGGCACAGCTGAGCCTAGCACAGAGAAGCTGGACCAGGGTTAGGGGGGCCCTGCAGCAGGAACGTGCATCTGTGCAGAGCAGACTAAGTGCTGGGCCGGAAGCAATCCTTCAGGGGCCCTAGACAGGCAGCTCTGTGACCGCCAAGTGTAGAATGTGGCTGTAAGAGGCTCAGAACATCACCTCCCAGGCTGGGAGCTGCAGTGTGTGTGTGTGTGTGGGTGTG...
GGTAGGGAGGCGTCTGTTGGTATTGGTCAGTGACCAACTCTGGGAGCCTACTGCTCTGACTGGTGGAAGGGTGGGTGGGGGCATGGCTGTGGTCCCAGGCACAGCTGAGCCTAGCACAGAGAAGCTGGACCAGGGTTAGGGGGGCCCTGCAGCAGGAACGTGCATCTGTGCAGAGCAGACTAAGTGCTGGGCCGGAAGCAATCCTTCAGGGGCCCTAGACAGGCAGCTCTGTGACCGCCAAGTGTAGAATGTGGCTGTAAGAGGCTCAGAACATCACCTCCCAGGCTGGGAGCTGCAGTGTGTGTGTGTGTGTGGGTGTG...
Task1_train_34345
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
AATATCAGTATATAAAACTAACAATTATATGGCCGTTAATTGACTAAAAACAGTACTTTAGATTTCAGCTAGTGAAACAGCCATATATGATCTTCTAATTCCATTTTTATGTCTCAAGAATGACTTGTTTAAATAATTTTTTTTGAATTGTTACATTTTCATCTTGAAAGAGCTTCACAAAACTTACATGAGAATCTGGATTGTCATAAGAGGTCTGAGTTTTTAATGGTATGTTCGTATTTCTGTTATGTACATCGATGTCAAACATTCATTTCCTGAGCTGTTCTCCAGAACACAATTTGACTTGTAATGAACACTCA...
AATATCAGTATATAAAACTAACAATTATATGGCCGTTAATTGACTAAAAACAGTACTTTAGATTTCAGCTAGTGAAACAGCCATATATGATCTTCTAATTCCATTTTTATGTCTCAAGAATGACTTGTTTAAATAATTTTTTTTGAATTGTTACATTTTCATCTTGAAAGAGCTTCACAAAACTTACATGAGAATCTGGATTGTCATAAGAGGTCTGAGTTTTTAATGGTATGTTCGTATTTCTGTTATGTACATCGATGTCAAACATTCATTTCCTGAGCTGTTCTCCAGAACACAATTTGACTTGTAATGAACACTCA...
Task1_train_34346
A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
AAAGAGCTTCACAAAACTTACATGAGAATCTGGATTGTCATAAGAGGTCTGAGTTTTTAATGGTATGTTCGTATTTCTGTTATGTACATCGATGTCAAACATTCATTTCCTGAGCTGTTCTCCAGAACACAATTTGACTTGTAATGAACACTCAATAAATGGTTGCTTGGATAATCAAATCAACACCTTAGTTTCATCAATTTTCATTTCATATAAAAGTGACTGATCTTCCATACTCACCAATGAAACAGAGAGAGATGAGGGAGGGATAGCAGTGGAGACTAAGAGGATGACAAGCAGACCTCATTTTGCAGTGGATA...
AAAGAGCTTCACAAAACTTACATGAGAATCTGGATTGTCATAAGAGGTCTGAGTTTTTAATGGTATGTTCGTATTTCTGTTATGTACATCGATGTCAAACATTCATTTCCTGAGCTGTTCTCCAGAACACAATTTGACTTGTAATGAACACTCAATAAATGGTTGCTTGGATAATCAAATCAACACCTTAGTTTCATCAATTTTCATTTCATATAAAAGTGACTGATCTTCCATACTCACCAATGAAACAGAGAGAGATGAGGGAGGGATAGCAGTGGAGACTAAGAGGATGACAAGCAGACCTCATTTTGCAGTGGATA...
Task1_train_34347
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
GCTCATGCCCATTGTTCTGTTGCAGGCACCAACCCCTTCCTCAGGTCGGTGCACCACTGCGTGACCTCCAGGCAGCCACAGCCTGGAAAAGCACTCGGTTACCACCTTGCTCAACACCTGTGCCCGGAACATCCACAAGGCCTGCCTCGGCTGCTTAGCCAGGACTGCAGGGATGGCCCGCAGCCTCATCGGGGCCAAGGACGCATGCCTCCTGTCAGACACTTCTAGGTGTTGGCGTCCATGGAGAGCCTGGAGTTAGGTTAGCTTTCCTCCTTTTCTCTCCTGCCTTGGGGATCTGCCAAATGAAATCCCGCACTTGT...
GCTCATGCCCATTGTTCTGTTGCAGGCACCAACCCCTTCCTCAGGTCGGTGCACCACTGCGTGACCTCCAGGCAGCCACAGCCTGGAAAAGCACTCGGTTACCACCTTGCTCAACACCTGTGCCCGGAACATCCACAAGGCCTGCCTCGGCTGCTTAGCCAGGACTGCAGGGATGGCCCGCAGCCTCATCGGGGCCAAGGACGCATGCCTCCTGTCAGACACTTCTAGGTGTTGGCGTCCATGGAGAGCCTGGAGTTAGGTTAGCTTTCCTCCTTTTCTCTCCTGCCTTGGGGATCTGCCAAATGAAATCCCGCACTTGT...
Task1_train_34348
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CAGCGGCATGAGGGTGCGCTCAGGGTGTTGTTAGAGCATCTTGTGTGTGCTCAACACACCCCTGCTCCTTTCTATAGGAGAACACAGAGGACATAGGAAACCCTTCAAACACACATCGGATTCTCTGCTCACAGTTTTGGGTTCAGGCTGTGCTGCTTTGGGCAGGTGGGGCACCCCCCAGAGAAGCCCCTAAGTCCAGGGCACAGGCTGCCTATCGGAGGGAGGGCTGGCCCATGGCTGCTGCCAGCTCCCCACCACCAGCTGGGCCTCAGCCCTCACGGCATTCCTGCTGAGCACTGTGGGGCCCCCAGGGAGCAGGG...
CAGCGGCATGAGGGTGCGCTCAGGGTGTTGTTAGAGCATCTTGTGTGTGCTCAACACACCCCTGCTCCTTTCTATAGGAGAACACAGAGGACATAGGAAACCCTTCAAACACACATCGGATTCTCTGCTCACAGTTTTGGGTTCAGGCTGTGCTGCTTTGGGCAGGTGGGGCACCCCCCAGAGAAGCCCCTAAGTCCAGGGCACAGGCTGCCTATCGGAGGGAGGGCTGGCCCATGGCTGCTGCCAGCTCCCCACCACCAGCTGGGCCTCAGCCCTCACGGCATTCCTGCTGAGCACTGTGGGGCCCCCAGGGAGCAGGG...
Task1_train_34349
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TGGGTCTGCAGGAGGTTGGTATTCCACAGCTCGCGGATGAGCACTTCGCACTGCCTAAGTGTGGTGGGCTTTCGCAGGGGAAGGGGCAGGATCATTGGGGGGTGTGCCGCCGCCCCCATCTGCCTGCCCTGGTGCTGGCTGTTCCCCATACAGGCAGCTCCTGCGTTAGAGGCCTCTGCTTTCTCCTTTCTGAAACAGTCATTGCAGCAGCCAGAGGTGACCTGCCCAGGTGCGTCTAACCACCCACCCAGCATACCTCCCCAGGCAGCGCCCAGGCCAATGTGGGGAAGAGGGCCTGGTTCCCCTCTCCCACTGAGCAG...
TGGGTCTGCAGGAGGTTGGTATTCCACAGCTCGCGGATGAGCACTTCGCACTGCCTAAGTGTGGTGGGCTTTCGCAGGGGAAGGGGCAGGATCATTGGGGGGTGTGCCGCCGCCCCCATCTGCCTGCCCTGGTGCTGGCTGTTCCCCATACAGGCAGCTCCTGCGTTAGAGGCCTCTGCTTTCTCCTTTCTGAAACAGTCATTGCAGCAGCCAGAGGTGACCTGCCCAGGTGCGTCTAACCACCCACCCAGCATACCTCCCCAGGCAGCGCCCAGGCCAATGTGGGGAAGAGGGCCTGGTTCCCCTCTCCCACTGAGCAG...
Task1_train_34350
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
TGCCCTAAGGGTCAGATGGGCTTCAGTGGGTGACCAGCTAGCTGCCAGGCTGCTCTTGATCGTGACCCCACACCCAGTGGGGCATCTTGCTCCAGGCCTGGTCTCGGGATGTGCAGATGCAGGAGCCTGTCCTGCTGGTTGCGCTGCTGAAAGTGTGCGCTCTGTAGCATCTCAGGGCAGTCCCGCAAACTCAGGGATCACCAGAACCTGTTCCTACTCTGACCTGCTGGCCTAGTGCCCTCCAAAGGCAGGCTGTGGCCAGGGGCAGCAAGCCTTCTCTTGGTCAGAATATTACTTTACTTTTCTCTGAGGAAGTGGTT...
TGCCCTAAGGGTCAGATGGGCTTCAGTGGGTGACCAGCTAGCTGCCAGGCTGCTCTTGATCGTGACCCCACACCCAGTGGGGCATCTTGCTCCAGGCCTGGTCTCGGGATGTGCAGATGCAGGAGCCTGTCCTGCTGGTTGCGCTGCTGAAAGTGTGCGCTCTGTAGCATCTCAGGGCAGTCCCGCAAACTCAGGGATCACCAGAACCTGTTCCTACTCTGACCTGCTGGCCTAGTGCCCTCCAAAGGCAGGCTGTGGCCAGGGGCAGCAAGCCTTCTCTTGGTCAGAATATTACTTTACTTTTCTCTGAGGAAGTGGTT...
Task1_train_34351
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
TCACTGCAACTTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACATGCCACCACATCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCGTGATCAGCCCTCCTCGGCCTCCCAAAGTGCAGAGATTACAGACGTGAGTCACCATGCCCGGCCGCTTTTTCTTTTTTCTCCTTTTTTTTTTTTTGAGATGGTCTCGCTCTGTCGCCCAGAGTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGC...
TCACTGCAACTTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACATGCCACCACATCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCGTGATCAGCCCTCCTCGGCCTCCCAAAGTGCAGAGATTACAGACGTGAGTCACCATGCCCGGCCGCTTTTTCTTTTTTCTCCTTTTTTTTTTTTTGAGATGGTCTCGCTCTGTCGCCCAGAGTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGC...
Task1_train_34352
A mutation on Chromosome 2 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GTAGGTAGGAAACAATGAAAGAGCTTCCAAAATCAAAATCAGAAACCCAATTCCAGGACTTGGTGACTGCAGTACTTCCTGCCTGTCACCATCTAGGGCAGCTCAGATGTGCAGTCCAGCATGAACACACCTTGAGGATGAGGCAGCGCATCCCTGCTGCTGCCGCCGCTGATGGCACCATCAGGGCAGACTAGGTTTGCTGACCAGGCTAGGTGTGGACCAGCACACCTACCTTTCCCTAAATGGGCCCGTGGCATGTGTCCTTTCAAAATGTTCCCTTGGCAGTGTGCTCCTTGCATGGCTTTGCTCCTAGGACACAT...
GTAGGTAGGAAACAATGAAAGAGCTTCCAAAATCAAAATCAGAAACCCAATTCCAGGACTTGGTGACTGCAGTACTTCCTGCCTGTCACCATCTAGGGCAGCTCAGATGTGCAGTCCAGCATGAACACACCTTGAGGATGAGGCAGCGCATCCCTGCTGCTGCCGCCGCTGATGGCACCATCAGGGCAGACTAGGTTTGCTGACCAGGCTAGGTGTGGACCAGCACACCTACCTTTCCCTAAATGGGCCCGTGGCATGTGTCCTTTCAAAATGTTCCCTTGGCAGTGTGCTCCTTGCATGGCTTTGCTCCTAGGACACAT...
Task1_train_34353
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
AGAGAAGGGAAAGAAAGCAGTCCGTGAAGCTTATATCAAACCTAGAAATGGTAGCTACTTCTCCTCAAACAGAAGACACCCTGTAGGTGACACGGAGAATGCTCAGTTCACCTCACAAACGTCACTAAGCCCTTCTCTGCACCAGGCAGGGTGATAGTTCCAGACGAGGAATAGAGAAAGGAACCTTGGAGGTAGCCACCCTGGTGGGATCCCAAGCTACCTAAAGGGCTGTGTCCTAGTACCTGTGACATGTGATAGGTGCCCAGGTGAAGACAGTCTTCCCTCTGAAAATGTATGCTGCTTGTCTTCTTTGTAGATTA...
AGAGAAGGGAAAGAAAGCAGTCCGTGAAGCTTATATCAAACCTAGAAATGGTAGCTACTTCTCCTCAAACAGAAGACACCCTGTAGGTGACACGGAGAATGCTCAGTTCACCTCACAAACGTCACTAAGCCCTTCTCTGCACCAGGCAGGGTGATAGTTCCAGACGAGGAATAGAGAAAGGAACCTTGGAGGTAGCCACCCTGGTGGGATCCCAAGCTACCTAAAGGGCTGTGTCCTAGTACCTGTGACATGTGATAGGTGCCCAGGTGAAGACAGTCTTCCCTCTGAAAATGTATGCTGCTTGTCTTCTTTGTAGATTA...
Task1_train_34354
A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CCACCCTGGTGGGATCCCAAGCTACCTAAAGGGCTGTGTCCTAGTACCTGTGACATGTGATAGGTGCCCAGGTGAAGACAGTCTTCCCTCTGAAAATGTATGCTGCTTGTCTTCTTTGTAGATTACAATTAAATTCTGTAGCTAAACTTCTTCCACCCAGATAGATTCAGAGTACACAACTCTTGCCCATGCTATCACAAGGAACATCATACCCACTTCTGACCCACAAAACAAGCCACTGTGGATATGCAAAGGTAGCAGATCATGGGTCAAGAGTCATATGAATGCTGCTACCACAGCAGCAGGAAGTGGTCGAAGTG...
CCACCCTGGTGGGATCCCAAGCTACCTAAAGGGCTGTGTCCTAGTACCTGTGACATGTGATAGGTGCCCAGGTGAAGACAGTCTTCCCTCTGAAAATGTATGCTGCTTGTCTTCTTTGTAGATTACAATTAAATTCTGTAGCTAAACTTCTTCCACCCAGATAGATTCAGAGTACACAACTCTTGCCCATGCTATCACAAGGAACATCATACCCACTTCTGACCCACAAAACAAGCCACTGTGGATATGCAAAGGTAGCAGATCATGGGTCAAGAGTCATATGAATGCTGCTACCACAGCAGCAGGAAGTGGTCGAAGTG...
Task1_train_34355
This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CTGAAAATGTATGCTGCTTGTCTTCTTTGTAGATTACAATTAAATTCTGTAGCTAAACTTCTTCCACCCAGATAGATTCAGAGTACACAACTCTTGCCCATGCTATCACAAGGAACATCATACCCACTTCTGACCCACAAAACAAGCCACTGTGGATATGCAAAGGTAGCAGATCATGGGTCAAGAGTCATATGAATGCTGCTACCACAGCAGCAGGAAGTGGTCGAAGTGGTCCATGTGCCTGCCTAAGTAGGGGGTGACATTCCAAGGTGGTAACCAAAGGGGAAGCATTCCAAGTTTCAGAACTCGGTAATAACATG...
CTGAAAATGTATGCTGCTTGTCTTCTTTGTAGATTACAATTAAATTCTGTAGCTAAACTTCTTCCACCCAGATAGATTCAGAGTACACAACTCTTGCCCATGCTATCACAAGGAACATCATACCCACTTCTGACCCACAAAACAAGCCACTGTGGATATGCAAAGGTAGCAGATCATGGGTCAAGAGTCATATGAATGCTGCTACCACAGCAGCAGGAAGTGGTCGAAGTGGTCCATGTGCCTGCCTAAGTAGGGGGTGACATTCCAAGGTGGTAACCAAAGGGGAAGCATTCCAAGTTTCAGAACTCGGTAATAACATG...
Task1_train_34356
A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
AATTACCCGGGCATGGTGGTACATGTCTGTGTTCCCAGCTACTTGGGAGGCTGAGGTGAGAGAATCGCTAGAGTCTGGGAGGCAGAGGTTGCAGTGAGCCAGGATCACACTACTACAGCCTGAGAGACAAAGCGAGACCCTGTCTCAAAAAATAAATAAATAAATAAAGCTCACCACAGATATATAGTGTGATGACTCAGAAAGAGTTCAAAAGACATCACTGACCTGGGCGCAGTGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGTCCAA...
AATTACCCGGGCATGGTGGTACATGTCTGTGTTCCCAGCTACTTGGGAGGCTGAGGTGAGAGAATCGCTAGAGTCTGGGAGGCAGAGGTTGCAGTGAGCCAGGATCACACTACTACAGCCTGAGAGACAAAGCGAGACCCTGTCTCAAAAAATAAATAAATAAATAAAGCTCACCACAGATATATAGTGTGATGACTCAGAAAGAGTTCAAAAGACATCACTGACCTGGGCGCAGTGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGTCCAA...
Task1_train_34357
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
TTGATCTGAGCTCATGATTCTATAAAACACTGTTGGTTGGAAAATTCCAACTTTGGGGTTCCAGGAAACAGCTTACCACAAAACACAGCCTTTCCCCTTGTGATTCAGATGAGACTGTTTGTCCACTCTTTCCCGTGACTCCTGTAAGACCCACTGATGACCCTGTTTGCCTGTGACACTGATCTTACCCATTGTACCTGAACATGCCAACAGACCAGACATAGACGTTCCAACTCCCCATTCTTTGTCTCAGGATGATTAACTGGGATTAGAAGTTTGTCCCTCTGAAACTAGCTAGACACACAGATAAATATTTTCTG...
TTGATCTGAGCTCATGATTCTATAAAACACTGTTGGTTGGAAAATTCCAACTTTGGGGTTCCAGGAAACAGCTTACCACAAAACACAGCCTTTCCCCTTGTGATTCAGATGAGACTGTTTGTCCACTCTTTCCCGTGACTCCTGTAAGACCCACTGATGACCCTGTTTGCCTGTGACACTGATCTTACCCATTGTACCTGAACATGCCAACAGACCAGACATAGACGTTCCAACTCCCCATTCTTTGTCTCAGGATGATTAACTGGGATTAGAAGTTTGTCCCTCTGAAACTAGCTAGACACACAGATAAATATTTTCTG...
Task1_train_34358
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GTGGGCCTCCAAGAGCAAGAGGGAGGCTGGGGGAGCCGGGTTGAAGATCTTTGGGCCACTGGTGCTGCCCTCCATGCAGCCCTAGCAGGACGGCCTGAGAGCGACAGGTGGGAAGTGGGGTTGCGGGGCTGTGCTCTTTGACAGATGGAGGTGCCCAGGGCTGACTGAAGTGGAGGGAGGGGGCAGGAGAGTGGATCAGGGGCCTTGGCTTCATCAGGTGTGCCTCTGGACACTGCACCACCAGCCCACCCGGGCCTGGGAGAGGGCAGAGCTCGGGCTGGGGCCAAGAGGCTGGGCCTTCACTAGCTGTGCCCTCCATT...
GTGGGCCTCCAAGAGCAAGAGGGAGGCTGGGGGAGCCGGGTTGAAGATCTTTGGGCCACTGGTGCTGCCCTCCATGCAGCCCTAGCAGGACGGCCTGAGAGCGACAGGTGGGAAGTGGGGTTGCGGGGCTGTGCTCTTTGACAGATGGAGGTGCCCAGGGCTGACTGAAGTGGAGGGAGGGGGCAGGAGAGTGGATCAGGGGCCTTGGCTTCATCAGGTGTGCCTCTGGACACTGCACCACCAGCCCACCCGGGCCTGGGAGAGGGCAGAGCTCGGGCTGGGGCCAAGAGGCTGGGCCTTCACTAGCTGTGCCCTCCATT...
Task1_train_34359
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
CTGTAAAAATTATCTTCCACAAAACCAGTCCCTGGTGCCAGCATGGTTGGGGACACCTGGTTAACAGATGTGAGACCCCTTTGCCTTGTCTTGGAATAATGTGCAGATATGCATTGTGTGAATGACATCTGATGGCGCCATCTTGCCCTGTACATCATTTTAGGGACAGCTCCAGTATTTCATGAAAATTAAAATTTCTTCTAGTGACGAACAAAATGATACTCAGAAGCAATTTTGTGAAGAACAGAACACTGGAATATTACACGATGAGATTCTGATTCATGAAGAAAAGCAGATAGAAGTGGTTGAAAAAATGAATT...
CTGTAAAAATTATCTTCCACAAAACCAGTCCCTGGTGCCAGCATGGTTGGGGACACCTGGTTAACAGATGTGAGACCCCTTTGCCTTGTCTTGGAATAATGTGCAGATATGCATTGTGTGAATGACATCTGATGGCGCCATCTTGCCCTGTACATCATTTTAGGGACAGCTCCAGTATTTCATGAAAATTAAAATTTCTTCTAGTGACGAACAAAATGATACTCAGAAGCAATTTTGTGAAGAACAGAACACTGGAATATTACACGATGAGATTCTGATTCATGAAGAAAAGCAGATAGAAGTGGTTGAAAAAATGAATT...
Task1_train_34360
Here is a mutation located on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TTCGCGCTTTCCGATTCCATGAAGTTGCTGCTTGTCACCCCGTCACCGGCTATAAGGATTTAGCTCACAACCACATTTTTACTGAGGGATTGTCATTTAACGAGTTTCCCTCTCCCAGGGAATCTGCATTCTAAGACCCCAAAGGCCGGCGAGGGTCGTTGTGCTGGGCTGGACAGCAGAGAGAGGCTCGGCCTTGGCCCTCAGCCCTGCAGCACACAGGGCACCCGCGCAGAGAGCGTGGCCTGCGAATGGCTCTGCTGCCTCTCCCGGCCTGGGGCCGATTAGACCGGTCAGAGCATCTGTAAAGTACAAGGGGCCCC...
TTCGCGCTTTCCGATTCCATGAAGTTGCTGCTTGTCACCCCGTCACCGGCTATAAGGATTTAGCTCACAACCACATTTTTACTGAGGGATTGTCATTTAACGAGTTTCCCTCTCCCAGGGAATCTGCATTCTAAGACCCCAAAGGCCGGCGAGGGTCGTTGTGCTGGGCTGGACAGCAGAGAGAGGCTCGGCCTTGGCCCTCAGCCCTGCAGCACACAGGGCACCCGCGCAGAGAGCGTGGCCTGCGAATGGCTCTGCTGCCTCTCCCGGCCTGGGGCCGATTAGACCGGTCAGAGCATCTGTAAAGTACAAGGGGCCCC...
Task1_train_34361
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GCAGCCAAGTGCAGCCCGTTCTGCAGTGATGACAGGGATCTGTGGGCAGAGGGGACCGAGCCTCGGAGGATGCTGTAGGTGGGAGAGCTAACATTGACTCAGCATTTACTTCAGGCTATGCACTGTGCTGAGTCCCTTACCTCTGGGCTTCCGCAACGTTTCCCTGAGGTCAGTGTGGTTGGCATTCGTGTTTCACAGATAAGGAAACTGGAACAAAGCTTTTCAAGGCCACGCAGCCAACACCTCGAGAGAGCGGGAGAGCTTGTTCACTTGAACTGGATCCCCAAACACCAACAGCCACCCTGGCCACTGGCTCTGAC...
GCAGCCAAGTGCAGCCCGTTCTGCAGTGATGACAGGGATCTGTGGGCAGAGGGGACCGAGCCTCGGAGGATGCTGTAGGTGGGAGAGCTAACATTGACTCAGCATTTACTTCAGGCTATGCACTGTGCTGAGTCCCTTACCTCTGGGCTTCCGCAACGTTTCCCTGAGGTCAGTGTGGTTGGCATTCGTGTTTCACAGATAAGGAAACTGGAACAAAGCTTTTCAAGGCCACGCAGCCAACACCTCGAGAGAGCGGGAGAGCTTGTTCACTTGAACTGGATCCCCAAACACCAACAGCCACCCTGGCCACTGGCTCTGAC...
Task1_train_34362
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
TCTCTGCATGGCACTGCAGGCATCAGTATGCCTCGGTGATGTGTGCACAAAAGGTGGTGGCTGCCTACCCTTGCAGCTCTGCCTGCCCACCCTGTGTCCCATGCTCACCTCCCACCACGATGCTCTGGTTCCTCTGTGTCCATGCTCTTGCACCATGAAGTTCTGGGCTGTGTCTTGCCTGATGGCATCTGTAGATAGAGTCTTGCCTCCCTGCACAGGCACACAGTCCTGGAGTCTGCAATATGCACACCCCCATAGCCCCAGCTGAGGGCCAGCTGCCTTCAGCCCAGGAAGCAGGCAGGTGTGGGTGTCCCTTTAGC...
TCTCTGCATGGCACTGCAGGCATCAGTATGCCTCGGTGATGTGTGCACAAAAGGTGGTGGCTGCCTACCCTTGCAGCTCTGCCTGCCCACCCTGTGTCCCATGCTCACCTCCCACCACGATGCTCTGGTTCCTCTGTGTCCATGCTCTTGCACCATGAAGTTCTGGGCTGTGTCTTGCCTGATGGCATCTGTAGATAGAGTCTTGCCTCCCTGCACAGGCACACAGTCCTGGAGTCTGCAATATGCACACCCCCATAGCCCCAGCTGAGGGCCAGCTGCCTTCAGCCCAGGAAGCAGGCAGGTGTGGGTGTCCCTTTAGC...
Task1_train_34363
Given this variant on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
GTTAAGAATTAAAAGCAATTTTACTTTGAGAAAGCTCTTATGACAAGTCCTGGGAAACCATGCCTGGGAGGGGCCGGTGGGGTGAATGGCTTCAGTACAAAGCTTGTGTCAAGGAGCCTTCGTGAGCAATGGGGCTGAGTGCTTGGCCAGCTCTGGGCCTGGGGGAGCTTTGGGGAGTTTGAGCATCGACTGCTGTGCACAGCAGTTTGTCAGAGTTCAAGTCATTGTATGTACTGAGACACGCTACAGCCATGATGCCTAAGGGAAGGAAGCCACACCCAAAAGAACATTCAATAGTCCCCCCTTATGCAAAGTTTCAG...
GTTAAGAATTAAAAGCAATTTTACTTTGAGAAAGCTCTTATGACAAGTCCTGGGAAACCATGCCTGGGAGGGGCCGGTGGGGTGAATGGCTTCAGTACAAAGCTTGTGTCAAGGAGCCTTCGTGAGCAATGGGGCTGAGTGCTTGGCCAGCTCTGGGCCTGGGGGAGCTTTGGGGAGTTTGAGCATCGACTGCTGTGCACAGCAGTTTGTCAGAGTTCAAGTCATTGTATGTACTGAGACACGCTACAGCCATGATGCCTAAGGGAAGGAAGCCACACCCAAAAGAACATTCAATAGTCCCCCCTTATGCAAAGTTTCAG...
Task1_train_34364
A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
CCAGCAAACAGACCGCGATGATTCTGAAACGCTGTCCCAGCAGAGTGAAAGTGGATCAGACACAAAAACTGACCCCTTTGAAAGTGCCTCTGACACAGAGTCCTTGTCTGGGTACCTCCCGAGGGGAGTCTTCCACCCTCTAAGAGGTACTCCCGTAGATATAGAAGCACCTTGGGAATACCCTGATGTCTCAGCAACTGGACCCCCTCAGGAGCAGCATTTGACCAGTGTTCCTGGGCTTCATGCAAAGGAAGAACTCGATTTGTCCCCTAGCTTAGAGGATGACTCTTGCAAAAATGGGTGGCGAGCCTTTGCCACAG...
CCAGCAAACAGACCGCGATGATTCTGAAACGCTGTCCCAGCAGAGTGAAAGTGGATCAGACACAAAAACTGACCCCTTTGAAAGTGCCTCTGACACAGAGTCCTTGTCTGGGTACCTCCCGAGGGGAGTCTTCCACCCTCTAAGAGGTACTCCCGTAGATATAGAAGCACCTTGGGAATACCCTGATGTCTCAGCAACTGGACCCCCTCAGGAGCAGCATTTGACCAGTGTTCCTGGGCTTCATGCAAAGGAAGAACTCGATTTGTCCCCTAGCTTAGAGGATGACTCTTGCAAAAATGGGTGGCGAGCCTTTGCCACAG...
Task1_train_34365
This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
TTCTGATCCACAAGGTACTTGGGGAGAAATAACTAGCTGAAAATAGTTTTTAAATGTAGAGCAATATTTGGGAGCTCAAATAAACACATTAGATCAGTGGTTTGCAACCTTGGACATACCTGGAGAGCTAGAAAAAGTCTTACTTCCCAGGCTGTACCCCAAAACCATTATGTAATAATTATCCAGCCATCCAGTTTCTCTTCCTCCATCTCTCTCTCTTTCACTGTAAACATATGCATATGTATACATTTTTAATTTTAGAATACCTCAGATTAAGCAGAGAATCTATAATTAAATCCTAATCTTGTAGAAAATTCTTA...
TTCTGATCCACAAGGTACTTGGGGAGAAATAACTAGCTGAAAATAGTTTTTAAATGTAGAGCAATATTTGGGAGCTCAAATAAACACATTAGATCAGTGGTTTGCAACCTTGGACATACCTGGAGAGCTAGAAAAAGTCTTACTTCCCAGGCTGTACCCCAAAACCATTATGTAATAATTATCCAGCCATCCAGTTTCTCTTCCTCCATCTCTCTCTCTTTCACTGTAAACATATGCATATGTATACATTTTTAATTTTAGAATACCTCAGATTAAGCAGAGAATCTATAATTAAATCCTAATCTTGTAGAAAATTCTTA...
Task1_train_34366
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
AGTGGGAGAACTGCTCTTCCCAAGGACAAGAAAGACTGGAAGCAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCAGCGAGTCGTAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGTTTCCGT...
AGTGGGAGAACTGCTCTTCCCAAGGACAAGAAAGACTGGAAGCAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCAGCGAGTCGTAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGTTTCCGT...
Task1_train_34367
Given this variant on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
TCCAAGTGCTCTCTGAATATTACAAGGTGACAATAAGTGGGAAGTGGAGGAGGAAGAGGAAAGAGAGGGGACTAAGGTTCTCCCAGTTTAAGGTTTTGTTGCAATGAGGGGATGAGGAAGTATGAAGATATTTTTGTTGTCTTTTCATCTTTATACTGTGTTAAGTAACGTTTACAACATAAATTCAGCAGGCTTTTCCTGACCTATAACTCGAAGTTTTCTTCCTGCAAACAATGTATTTACAAATGTGTTTATTAGCTTACACAGCAATCTCACAATAACTAGTGAAGATTAAAAGGGCACACTCCTAGTATATTTGT...
TCCAAGTGCTCTCTGAATATTACAAGGTGACAATAAGTGGGAAGTGGAGGAGGAAGAGGAAAGAGAGGGGACTAAGGTTCTCCCAGTTTAAGGTTTTGTTGCAATGAGGGGATGAGGAAGTATGAAGATATTTTTGTTGTCTTTTCATCTTTATACTGTGTTAAGTAACGTTTACAACATAAATTCAGCAGGCTTTTCCTGACCTATAACTCGAAGTTTTCTTCCTGCAAACAATGTATTTACAAATGTGTTTATTAGCTTACACAGCAATCTCACAATAACTAGTGAAGATTAAAAGGGCACACTCCTAGTATATTTGT...
Task1_train_34368
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CCCATGATCTGCTACCTTTGCATATCCACAGTGGCTTGTTCTGTGGGTCAGAAGTGGGTATGATGTTCCTTGTGATAGCATGGGGAAGAGTTGTGTACTCTGAATCTATCTGGGTGGAAGAAGTTTAGCTACAGAATTTAATTGTAATCTACAAAGAAGACAAGCAGCATACATTTTCAGAGGGAAGACTGTCTTCACCTGGGCACCTATCACATGTCACAGGTACTAGGACACAGCCCTTTAGGTAGCTTGGGATCCCACCAGGGTGGCTACCTCCAAGGTTCCTTTCTCTATTCCTCATCTGGAACTATCACCCTGCC...
CCCATGATCTGCTACCTTTGCATATCCACAGTGGCTTGTTCTGTGGGTCAGAAGTGGGTATGATGTTCCTTGTGATAGCATGGGGAAGAGTTGTGTACTCTGAATCTATCTGGGTGGAAGAAGTTTAGCTACAGAATTTAATTGTAATCTACAAAGAAGACAAGCAGCATACATTTTCAGAGGGAAGACTGTCTTCACCTGGGCACCTATCACATGTCACAGGTACTAGGACACAGCCCTTTAGGTAGCTTGGGATCCCACCAGGGTGGCTACCTCCAAGGTTCCTTTCTCTATTCCTCATCTGGAACTATCACCCTGCC...
Task1_train_34369
Consider this mutation on Chromosome 2. Is this a benign change or a disease-causing variant?
Benign
ACAGTGGCTTGTTCTGTGGGTCAGAAGTGGGTATGATGTTCCTTGTGATAGCATGGGGAAGAGTTGTGTACTCTGAATCTATCTGGGTGGAAGAAGTTTAGCTACAGAATTTAATTGTAATCTACAAAGAAGACAAGCAGCATACATTTTCAGAGGGAAGACTGTCTTCACCTGGGCACCTATCACATGTCACAGGTACTAGGACACAGCCCTTTAGGTAGCTTGGGATCCCACCAGGGTGGCTACCTCCAAGGTTCCTTTCTCTATTCCTCATCTGGAACTATCACCCTGCCTGGTGCAGAGAAGGGCTTAGTGACGTT...
ACAGTGGCTTGTTCTGTGGGTCAGAAGTGGGTATGATGTTCCTTGTGATAGCATGGGGAAGAGTTGTGTACTCTGAATCTATCTGGGTGGAAGAAGTTTAGCTACAGAATTTAATTGTAATCTACAAAGAAGACAAGCAGCATACATTTTCAGAGGGAAGACTGTCTTCACCTGGGCACCTATCACATGTCACAGGTACTAGGACACAGCCCTTTAGGTAGCTTGGGATCCCACCAGGGTGGCTACCTCCAAGGTTCCTTTCTCTATTCCTCATCTGGAACTATCACCCTGCCTGGTGCAGAGAAGGGCTTAGTGACGTT...
Task1_train_34370
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
CATTCCCCTCCACCTCCTCCTCAGGTTCCACTCTATCCCCATGGGGCCTCGGTGCCCTCATGTCGTGGCTTTCTGCCACCCAGCCTACAGGACCTGGGCTATGCTTCCAGGACACAGCCCTCGAGAAACAAATGACCCTGAGGGGCCCAGCACTCCAGGCCACTCCTGTCCTCGGGTAAATTCTCTTGGAGCCCCCATTCGCTCACATGGCACCCCCTAATCCTCCTGGCCCCTCTATGCCTGCATTTCCAGTGCCACAACCCCCACATACATCTTGACTGTGCCCCCCCACCTGCCTCCTCCTGCCCTGGGCCTACCAG...
CATTCCCCTCCACCTCCTCCTCAGGTTCCACTCTATCCCCATGGGGCCTCGGTGCCCTCATGTCGTGGCTTTCTGCCACCCAGCCTACAGGACCTGGGCTATGCTTCCAGGACACAGCCCTCGAGAAACAAATGACCCTGAGGGGCCCAGCACTCCAGGCCACTCCTGTCCTCGGGTAAATTCTCTTGGAGCCCCCATTCGCTCACATGGCACCCCCTAATCCTCCTGGCCCCTCTATGCCTGCATTTCCAGTGCCACAACCCCCACATACATCTTGACTGTGCCCCCCCACCTGCCTCCTCCTGCCCTGGGCCTACCAG...
Task1_train_34371
Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
GGGCCTCGGTGCCCTCATGTCGTGGCTTTCTGCCACCCAGCCTACAGGACCTGGGCTATGCTTCCAGGACACAGCCCTCGAGAAACAAATGACCCTGAGGGGCCCAGCACTCCAGGCCACTCCTGTCCTCGGGTAAATTCTCTTGGAGCCCCCATTCGCTCACATGGCACCCCCTAATCCTCCTGGCCCCTCTATGCCTGCATTTCCAGTGCCACAACCCCCACATACATCTTGACTGTGCCCCCCCACCTGCCTCCTCCTGCCCTGGGCCTACCAGCACCTGGACAGCGCTCTGCCTCTCCCATGCCCTCCCACTGCCC...
GGGCCTCGGTGCCCTCATGTCGTGGCTTTCTGCCACCCAGCCTACAGGACCTGGGCTATGCTTCCAGGACACAGCCCTCGAGAAACAAATGACCCTGAGGGGCCCAGCACTCCAGGCCACTCCTGTCCTCGGGTAAATTCTCTTGGAGCCCCCATTCGCTCACATGGCACCCCCTAATCCTCCTGGCCCCTCTATGCCTGCATTTCCAGTGCCACAACCCCCACATACATCTTGACTGTGCCCCCCCACCTGCCTCCTCCTGCCCTGGGCCTACCAGCACCTGGACAGCGCTCTGCCTCTCCCATGCCCTCCCACTGCCC...
Task1_train_34372
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
TCCATGTGCTCACAGGGGTGAGTGCCCCACGGGGACCCCAGCCTGGGTGGCCTCTAGGGGTGCTGACCAGGCGCCCTCTGCTGGGCCAAGCTCCAGGATTTGGGGATGAAGGTGCAGCTGAAAAGAGCCCTGCAAGCTGAAGCCACCGGGAGGGGATTAAGGGGGGGTGGGCAGGACCAGGGACCAGTCACAGGGCAGTAAGGCCTCACAGCAGGCACCCCAGGGCGGGGCAGCAAGCAGGCAGGAGGGGCCTCCCCGGGTGGCCTTCTAGGGAGGATGTACCCTGGCTGCCCAGCAGCAGCCCTGCTTGGCCGTGTCCC...
TCCATGTGCTCACAGGGGTGAGTGCCCCACGGGGACCCCAGCCTGGGTGGCCTCTAGGGGTGCTGACCAGGCGCCCTCTGCTGGGCCAAGCTCCAGGATTTGGGGATGAAGGTGCAGCTGAAAAGAGCCCTGCAAGCTGAAGCCACCGGGAGGGGATTAAGGGGGGGTGGGCAGGACCAGGGACCAGTCACAGGGCAGTAAGGCCTCACAGCAGGCACCCCAGGGCGGGGCAGCAAGCAGGCAGGAGGGGCCTCCCCGGGTGGCCTTCTAGGGAGGATGTACCCTGGCTGCCCAGCAGCAGCCCTGCTTGGCCGTGTCCC...
Task1_train_34373
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
ATGTCTCTTAAAGCTTGTCTCAGAGGTTTACATATGCATCCCCGCACAACGCCAGGACCAAGTTTCACAATGTTTATCCCTATTTCAATCCCCATTGCCTTTTTATCCCCATCCCCTTAAGGCTCACCATGTACAGTTGTGCAGGTTGTACACAAACATACATGATAGTCCTCCATATGACAGTGATGTGAAGGAAGGGAAGCCATCAGGAGATAGGACTTGCTTGTTTCTGAAACCTCTTGTGACCCTTGTGTCCCTTACTCTGCCCAACATATAAAAAACACTCCATCAATATGTATTATTTCTATACACACATATAC...
ATGTCTCTTAAAGCTTGTCTCAGAGGTTTACATATGCATCCCCGCACAACGCCAGGACCAAGTTTCACAATGTTTATCCCTATTTCAATCCCCATTGCCTTTTTATCCCCATCCCCTTAAGGCTCACCATGTACAGTTGTGCAGGTTGTACACAAACATACATGATAGTCCTCCATATGACAGTGATGTGAAGGAAGGGAAGCCATCAGGAGATAGGACTTGCTTGTTTCTGAAACCTCTTGTGACCCTTGTGTCCCTTACTCTGCCCAACATATAAAAAACACTCCATCAATATGTATTATTTCTATACACACATATAC...
Task1_train_34374
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CAAAGTAAGGTGTCTGTCATCTTCCACAGTGACTTTTTGTGTGTGTTGCACCTAAAATGGACTCTCTCTGCAAATTTTCAATCTACATTGCAACATTATTAACTGTTGTCCTGTGGCTGTATGATAAATCTGTAGACTTATTCATTTTGTCCTTTGACCTACATGTCCCCATTTCCTCTCCCTCCCAGGCCTTGGTAACCACCTTTCTACTCTTTGTTTCTATGTATTTAACTTTATTTTATATTCCACATCTGAGTAAGACCTTGCTCTCACTCACTCTTTTATGGCCTTGGGGAAGCATAGGTCCTCCAGACAGCAGA...
CAAAGTAAGGTGTCTGTCATCTTCCACAGTGACTTTTTGTGTGTGTTGCACCTAAAATGGACTCTCTCTGCAAATTTTCAATCTACATTGCAACATTATTAACTGTTGTCCTGTGGCTGTATGATAAATCTGTAGACTTATTCATTTTGTCCTTTGACCTACATGTCCCCATTTCCTCTCCCTCCCAGGCCTTGGTAACCACCTTTCTACTCTTTGTTTCTATGTATTTAACTTTATTTTATATTCCACATCTGAGTAAGACCTTGCTCTCACTCACTCTTTTATGGCCTTGGGGAAGCATAGGTCCTCCAGACAGCAGA...
Task1_train_34375
Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CGGTAGAAAGACCCCAGCCAGAACATCTCAGATTGTAGCACTTGATACCAGGATGGTGGAGCACTTACCAGGGAGTCTTTTGGTACTTCCATATCGGCTTTGATTTTCATGTTTTTCTTGTGGTTTCCTTGAGTACTGATAGAGCTGCCGATGAGACAGGAGCCCTGAGAACTGCCCTTTAACACATTCCTGCAGGAAGCATTACTTGATCCACTTTCTGTCTGTGGAGCTGCTTTCTTATCAACTCTGCAGGTAGAAAGTGATTCCTCTGATAAGTTACCTTGCTCCTTCTTCAATCACTCTCCTTTTCCCAATCTTTT...
CGGTAGAAAGACCCCAGCCAGAACATCTCAGATTGTAGCACTTGATACCAGGATGGTGGAGCACTTACCAGGGAGTCTTTTGGTACTTCCATATCGGCTTTGATTTTCATGTTTTTCTTGTGGTTTCCTTGAGTACTGATAGAGCTGCCGATGAGACAGGAGCCCTGAGAACTGCCCTTTAACACATTCCTGCAGGAAGCATTACTTGATCCACTTTCTGTCTGTGGAGCTGCTTTCTTATCAACTCTGCAGGTAGAAAGTGATTCCTCTGATAAGTTACCTTGCTCCTTCTTCAATCACTCTCCTTTTCCCAATCTTTT...
Task1_train_34376
A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation?
Benign
GAAGAGTGATTATTAACTACATTTTTAGCTTAAGAGCAGCAAGAAATATAATTATTTCTGGAAAGTTTCCAAGTATATGTTTGCTAGGTATAATCAACGAAATCGGCATGCTTTAAAACGTATGTGTAATTTTCTTCCATTTCACGCCATCTGGGTACATTCATAGCTCCTAGTGTAGGTGGAATTGCTATCAACCCTGATAAAACTTACCATTCTTTAATTTCAAAGGCCATTGGTTTGGTTAACAAAGTAACATGGACTAAATGATCATTTTATTGCTAACTTTTATTTCATTGCTTAAATTCTGGCTAATGTATAAA...
GAAGAGTGATTATTAACTACATTTTTAGCTTAAGAGCAGCAAGAAATATAATTATTTCTGGAAAGTTTCCAAGTATATGTTTGCTAGGTATAATCAACGAAATCGGCATGCTTTAAAACGTATGTGTAATTTTCTTCCATTTCACGCCATCTGGGTACATTCATAGCTCCTAGTGTAGGTGGAATTGCTATCAACCCTGATAAAACTTACCATTCTTTAATTTCAAAGGCCATTGGTTTGGTTAACAAAGTAACATGGACTAAATGATCATTTTATTGCTAACTTTTATTTCATTGCTTAAATTCTGGCTAATGTATAAA...
Task1_train_34377
Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
ATGAAAAAACATGCTTGACTGGCCTTTAATGCACAGGAAGCAAACAACTCTTTTAAAGGTGGTGGAGGGACCCCTCTACATTGCTACCTGCTTTTCCAGTGAGTTACCTGTTCAAGAGTTCCGTCATGAAGGTGTCTTTCGTTGAACATGCAACAGGGCTGTGTCTATTCCTTGGTTCAATCTTCAGTTGGTTGTAAATGTCTTGTGGTGTTCTCCGATTATTTTTGCTTTGTAAACCGCCATCTGGATTATCTGCTGACTTGGTGTCCTTGATAAGCTCATTTTCTGTCTCACACTGTAGTTCAGGCTTCTTTTTCTCT...
ATGAAAAAACATGCTTGACTGGCCTTTAATGCACAGGAAGCAAACAACTCTTTTAAAGGTGGTGGAGGGACCCCTCTACATTGCTACCTGCTTTTCCAGTGAGTTACCTGTTCAAGAGTTCCGTCATGAAGGTGTCTTTCGTTGAACATGCAACAGGGCTGTGTCTATTCCTTGGTTCAATCTTCAGTTGGTTGTAAATGTCTTGTGGTGTTCTCCGATTATTTTTGCTTTGTAAACCGCCATCTGGATTATCTGCTGACTTGGTGTCCTTGATAAGCTCATTTTCTGTCTCACACTGTAGTTCAGGCTTCTTTTTCTCT...
Task1_train_34378
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
AGGCTTGTCTCCTGAGTGTGTACTGAAGCTGTGGCTGCGGGCTTTGGCGCCATTCATACCCAGAGCTGGTTTTAGGTGTGGTTTGCTGGAGGAAAGGGATCTTCTCATGGATCTATTATCTACCCCATCCCTTCCATCACTCCCAGGGATGCTACTTTCCAATGGCTCTTGTAGTGCTGTTTCCAGGGGAAGCCCATCAGCTAAACTGCCCTGTGCTTGTGAATCCGGTAGGGTCACATTTCTTTCACCCGCTGTGATCTCCATGCTTGCTGGATTCTTGGAGTCCTCTGGCTTAGACTTGTTCACAGCCACGGAACTTT...
AGGCTTGTCTCCTGAGTGTGTACTGAAGCTGTGGCTGCGGGCTTTGGCGCCATTCATACCCAGAGCTGGTTTTAGGTGTGGTTTGCTGGAGGAAAGGGATCTTCTCATGGATCTATTATCTACCCCATCCCTTCCATCACTCCCAGGGATGCTACTTTCCAATGGCTCTTGTAGTGCTGTTTCCAGGGGAAGCCCATCAGCTAAACTGCCCTGTGCTTGTGAATCCGGTAGGGTCACATTTCTTTCACCCGCTGTGATCTCCATGCTTGCTGGATTCTTGGAGTCCTCTGGCTTAGACTTGTTCACAGCCACGGAACTTT...
Task1_train_34379
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
CTGAGTGTGTACTGAAGCTGTGGCTGCGGGCTTTGGCGCCATTCATACCCAGAGCTGGTTTTAGGTGTGGTTTGCTGGAGGAAAGGGATCTTCTCATGGATCTATTATCTACCCCATCCCTTCCATCACTCCCAGGGATGCTACTTTCCAATGGCTCTTGTAGTGCTGTTTCCAGGGGAAGCCCATCAGCTAAACTGCCCTGTGCTTGTGAATCCGGTAGGGTCACATTTCTTTCACCCGCTGTGATCTCCATGCTTGCTGGATTCTTGGAGTCCTCTGGCTTAGACTTGTTCACAGCCACGGAACTTTTGGAGGCTTCA...
CTGAGTGTGTACTGAAGCTGTGGCTGCGGGCTTTGGCGCCATTCATACCCAGAGCTGGTTTTAGGTGTGGTTTGCTGGAGGAAAGGGATCTTCTCATGGATCTATTATCTACCCCATCCCTTCCATCACTCCCAGGGATGCTACTTTCCAATGGCTCTTGTAGTGCTGTTTCCAGGGGAAGCCCATCAGCTAAACTGCCCTGTGCTTGTGAATCCGGTAGGGTCACATTTCTTTCACCCGCTGTGATCTCCATGCTTGCTGGATTCTTGGAGTCCTCTGGCTTAGACTTGTTCACAGCCACGGAACTTTTGGAGGCTTCA...
Task1_train_34380
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TTACTGAAATAATTCACTTAATGATTGTGTTCCAGAAAAGAACATTGGCTTAGACAGTAGCTTTGAGAGAGAAGGGCCTCTATTTTAGGCACATACTGTGATTTTTGTGCATATAGCTAATTAATTATGTTAATGGATTATTTAACAGATTCTTTTGTTGTTCTGCTATAAAATTTAATACAGTAGGATACTTAAGAAAAACAAAGCTTACATTTTGTGTACGAGATTTTGGACCAGAACTTGAAGTGTATTTAATGTTTTACAACCAAGTTGTTAACAGAAATTGAGTCAAAACAGTTTTGTTAATGTTGGACCCAAAA...
TTACTGAAATAATTCACTTAATGATTGTGTTCCAGAAAAGAACATTGGCTTAGACAGTAGCTTTGAGAGAGAAGGGCCTCTATTTTAGGCACATACTGTGATTTTTGTGCATATAGCTAATTAATTATGTTAATGGATTATTTAACAGATTCTTTTGTTGTTCTGCTATAAAATTTAATACAGTAGGATACTTAAGAAAAACAAAGCTTACATTTTGTGTACGAGATTTTGGACCAGAACTTGAAGTGTATTTAATGTTTTACAACCAAGTTGTTAACAGAAATTGAGTCAAAACAGTTTTGTTAATGTTGGACCCAAAA...
Task1_train_34381
This variant is found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
CATCTCAGGCAATGGCCCAAAACGGTTTATAATACTAGAGATTGAGCCACCAGGAACAAACTCCATGAAAATGCTCACAGTGTTCTCTTGCAAGCATGTCCCCAAATAGGCCACAATGTTGACATGTTTCAGTGCTTTGAGCAAATCTACTTCTTCCTGTAGTTTCCGGTATTCCTTTTCAGCAGCTAATTTATTAGAGGTATCCAAAGCCACCTGTTTTACAGCTATTAGCTGTCCTTGACTAGTGAGACCACAGTATACCTAGAAGCAAATCAATAATACCTTGTTATTAAATTAATGACATAACTTATTCACAAAAT...
CATCTCAGGCAATGGCCCAAAACGGTTTATAATACTAGAGATTGAGCCACCAGGAACAAACTCCATGAAAATGCTCACAGTGTTCTCTTGCAAGCATGTCCCCAAATAGGCCACAATGTTGACATGTTTCAGTGCTTTGAGCAAATCTACTTCTTCCTGTAGTTTCCGGTATTCCTTTTCAGCAGCTAATTTATTAGAGGTATCCAAAGCCACCTGTTTTACAGCTATTAGCTGTCCTTGACTAGTGAGACCACAGTATACCTAGAAGCAAATCAATAATACCTTGTTATTAAATTAATGACATAACTTATTCACAAAAT...
Task1_train_34382
This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
AAAAATTATCCAGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTTAACCCAGGAGGTGGAGTTTGCAGCAAGCCGAGATCGCAGCACTGCGCTCCAGCCTGGGCAATAGAGCAAGACTCCATCTCAAAAAAAAATTATTCCTGATCCTGATATAGTGTGGATATAGTGCAGTATGACCTGAGTTAGTGTTCAATAAATAATATTTCAGTTTACCTACTGTTTCTGTCTTTAAAATTTCAGTTTGGGAGGCTTGTGTACTTTAGTGAAAACGATAACAAAGAAAACCCGACT...
AAAAATTATCCAGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTTAACCCAGGAGGTGGAGTTTGCAGCAAGCCGAGATCGCAGCACTGCGCTCCAGCCTGGGCAATAGAGCAAGACTCCATCTCAAAAAAAAATTATTCCTGATCCTGATATAGTGTGGATATAGTGCAGTATGACCTGAGTTAGTGTTCAATAAATAATATTTCAGTTTACCTACTGTTTCTGTCTTTAAAATTTCAGTTTGGGAGGCTTGTGTACTTTAGTGAAAACGATAACAAAGAAAACCCGACT...
Task1_train_34383
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
AATAAAATACTGACCTATTTGAATGGTTTTGCTAAATTAATTTAACCAAACTGATTTCATTGCAATGTCAAGCTAGCTAAATTCCAGAAGGGAGTCAATATAATGAAAACATCTTAGCCTGGGGGTCAGAGGACCTGATTTCCAACCTTGTGATCAAACAGTGAGACCTTGAAAAAACTATTTAATTGTTTAGGGTTTATAATTCCTCATTTGAAAATAAGGGGTTTGAACCAGATTGTCTCTGAGGTCCTTCCCACCCCAATGAATCTTGGATTCTAATTATACCAACCTGTATTTTGACTTTTGTTGTCTCTCTGCCC...
AATAAAATACTGACCTATTTGAATGGTTTTGCTAAATTAATTTAACCAAACTGATTTCATTGCAATGTCAAGCTAGCTAAATTCCAGAAGGGAGTCAATATAATGAAAACATCTTAGCCTGGGGGTCAGAGGACCTGATTTCCAACCTTGTGATCAAACAGTGAGACCTTGAAAAAACTATTTAATTGTTTAGGGTTTATAATTCCTCATTTGAAAATAAGGGGTTTGAACCAGATTGTCTCTGAGGTCCTTCCCACCCCAATGAATCTTGGATTCTAATTATACCAACCTGTATTTTGACTTTTGTTGTCTCTCTGCCC...
Task1_train_34384
This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Benign
TACCCAATCTATGGTACTTTGTTATAGCAGCCAGAACTGACTAAGACACACACACATACACACACACACACACACACACACGTGTACACACACATCTTATGCATGAGTCTCAGAGTTTACTAGCTAATTACTGCTCTGAGATTAAACTTTCAGAAGAGTGTCTTACCAAATATGCTTTTTTATGATTACACTTAAAAATAAAATTGTAATATATGAGTGTTATGAAGTATTCAAGCAACACAAATAAAGTAGTAGATGGAGTAGGCTGTCCGTTGTTTCTTTAAAGGGAGGCTCTTACCTCACTTCTGCTGATGCTTTGC...
TACCCAATCTATGGTACTTTGTTATAGCAGCCAGAACTGACTAAGACACACACACATACACACACACACACACACACACACGTGTACACACACATCTTATGCATGAGTCTCAGAGTTTACTAGCTAATTACTGCTCTGAGATTAAACTTTCAGAAGAGTGTCTTACCAAATATGCTTTTTTATGATTACACTTAAAAATAAAATTGTAATATATGAGTGTTATGAAGTATTCAAGCAACACAAATAAAGTAGTAGATGGAGTAGGCTGTCCGTTGTTTCTTTAAAGGGAGGCTCTTACCTCACTTCTGCTGATGCTTTGC...
Task1_train_34385
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
ACCAGCCTGGCCAACATAGTGAAACTCCGTCTTTACTAAAAATACAAAAATTGGCCGGGCAGTAGTGGCCATGTGCCTGTAGTCTTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGTGGGGAGCCAAGATCGCACCACTGCACTCCAGTCTGGGCCAACAGAGAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGACACATATGGGATCAGTTGACAAAACTGCAATAAAGATAGTAGGTTAGATTACAATTATTTTTATCAGTGTTAAATTTATTGTATATAATC...
ACCAGCCTGGCCAACATAGTGAAACTCCGTCTTTACTAAAAATACAAAAATTGGCCGGGCAGTAGTGGCCATGTGCCTGTAGTCTTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGTGGGGAGCCAAGATCGCACCACTGCACTCCAGTCTGGGCCAACAGAGAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGACACATATGGGATCAGTTGACAAAACTGCAATAAAGATAGTAGGTTAGATTACAATTATTTTTATCAGTGTTAAATTTATTGTATATAATC...
Task1_train_34386
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TATAGTAATATCACTGTTACTTAGACTATGTATTTCTCTCTAATCAGACTTTCTTATTCACAAAAGGTAGTTTTTATTTTTTTAAGTTGCTTGACAGATTCCTTATTGAATCATGGGTCTAGAAATTTTCATTGTTGCTCTTGGTATTGCAAAGGAAAAATCAGAACTATAAAACCCATATTAAATTATGACTTTTGTTGCTAAATCATTCAACTTATACATTTAATGTGAACTAACATTATTTTATAGTCACAATAGAGCTTATTTTTATTGCCTGTAGCAGTTGGGAATTGCATGCAATCATGCTAATTGTGACAGAG...
TATAGTAATATCACTGTTACTTAGACTATGTATTTCTCTCTAATCAGACTTTCTTATTCACAAAAGGTAGTTTTTATTTTTTTAAGTTGCTTGACAGATTCCTTATTGAATCATGGGTCTAGAAATTTTCATTGTTGCTCTTGGTATTGCAAAGGAAAAATCAGAACTATAAAACCCATATTAAATTATGACTTTTGTTGCTAAATCATTCAACTTATACATTTAATGTGAACTAACATTATTTTATAGTCACAATAGAGCTTATTTTTATTGCCTGTAGCAGTTGGGAATTGCATGCAATCATGCTAATTGTGACAGAG...
Task1_train_34387
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GACAAAAATAACATACTGCCATGGTCAGAACTAAATAAAAATCTTTCAAACCCTTGAAGAAAATACTCTTTTTCTTATTATTTTGATCACAAAGCTGTTTTTCGTCTTCCTATTTTTCTTTTACTTCTTACATATATTTATGTACAAATCTGTTCTCTATTTCACCCATCTAAGTATTTTACAATAGAAATTTCATTAACTTGCTTAGATAATTCTCACTTTTAATCTCCTTTTGCATAATTTGACAGGAGGCTTTTACGTACTTTATTAGAAATTCATAGGTTAAAATAAATGTTCAAAAGTATTACTTCGGTTCTAGG...
GACAAAAATAACATACTGCCATGGTCAGAACTAAATAAAAATCTTTCAAACCCTTGAAGAAAATACTCTTTTTCTTATTATTTTGATCACAAAGCTGTTTTTCGTCTTCCTATTTTTCTTTTACTTCTTACATATATTTATGTACAAATCTGTTCTCTATTTCACCCATCTAAGTATTTTACAATAGAAATTTCATTAACTTGCTTAGATAATTCTCACTTTTAATCTCCTTTTGCATAATTTGACAGGAGGCTTTTACGTACTTTATTAGAAATTCATAGGTTAAAATAAATGTTCAAAAGTATTACTTCGGTTCTAGG...
Task1_train_34388
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
GAGCCTGGGAACTTTGGCTTCTTAACCTGTAGATGGAGCATTTTCCAGGCACTCTGAGTGAAAAGCCTCTCCTGTAGAACCTGACTAATACACTTGTGTGCAGCATGTACAGGTGATCCTGAATGCATGCGCATGCCCACAGGGAGACCTGGGGCTTCTGGTTTAGGTGTGGCCCAGAGATGCCCTGCTGAGGCCTCTGACACTTTCATCTTGACCTTTCTGCTACCATTAACCTGAGGGATCAAGAACCTTCCTTCCCTGGGGTTTCTGAGATGATGGGAGAAAACCAAAGCACAGCCTCCTCCTGTCCCTGACGCTTC...
GAGCCTGGGAACTTTGGCTTCTTAACCTGTAGATGGAGCATTTTCCAGGCACTCTGAGTGAAAAGCCTCTCCTGTAGAACCTGACTAATACACTTGTGTGCAGCATGTACAGGTGATCCTGAATGCATGCGCATGCCCACAGGGAGACCTGGGGCTTCTGGTTTAGGTGTGGCCCAGAGATGCCCTGCTGAGGCCTCTGACACTTTCATCTTGACCTTTCTGCTACCATTAACCTGAGGGATCAAGAACCTTCCTTCCCTGGGGTTTCTGAGATGATGGGAGAAAACCAAAGCACAGCCTCCTCCTGTCCCTGACGCTTC...
Task1_train_34389
This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
ACTCCAGCTTCTCATCCTATTGTTCCCATTTCAAGCACAATCTTTGTTTGATTGCCACCTCTTCTCAGCCTCCCTGGGCAATCCCTTTACATTCCCCTAATACCTGTTCTCTCTTCCTTTCTCTGTCCCCTCCACATGGCTTGCAAACTGTAACATTTACATTGGCAATCTTGCTTTGTACTTGCCCTTTATTTTAAGTCATATCAAATCCTTTTGGTAAACTGGAAAAGAATTAATTGCAAATAAAACATTATTATTTTGTTTCGCAGCCTCTCTTTTCCTTTCACCCTCATAAGCAGCTCAGGTTGCCTCATTGTTCA...
ACTCCAGCTTCTCATCCTATTGTTCCCATTTCAAGCACAATCTTTGTTTGATTGCCACCTCTTCTCAGCCTCCCTGGGCAATCCCTTTACATTCCCCTAATACCTGTTCTCTCTTCCTTTCTCTGTCCCCTCCACATGGCTTGCAAACTGTAACATTTACATTGGCAATCTTGCTTTGTACTTGCCCTTTATTTTAAGTCATATCAAATCCTTTTGGTAAACTGGAAAAGAATTAATTGCAAATAAAACATTATTATTTTGTTTCGCAGCCTCTCTTTTCCTTTCACCCTCATAAGCAGCTCAGGTTGCCTCATTGTTCA...
Task1_train_34390
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
GAGTCTTTGCCCAGTTCCCCCTCCTCCTGAGAGGAAGTCTTGTGAAATTCCCTGCCGAATGGACTGTGTGCTGAGCGAGTGGACGGAGTGGTCATCCTGTTCCCAGTCCTGTTCAAATAAAAACTCAGATGGGAAACAGACCAGGTCAAGAACTATCCTGGCACTGGCTGGGGAAGGTGAGTAACAGAAAAGGTTTTCACTTTGGATTCATTAGCCCAATTATTATCATTTTTCCTCATTGGTGATAGAGAAGTTTATATGGAGGAAATAGTCACACATAGACGATATCTCTATTCCCTGAATCCAGATTAACAGTTTCA...
GAGTCTTTGCCCAGTTCCCCCTCCTCCTGAGAGGAAGTCTTGTGAAATTCCCTGCCGAATGGACTGTGTGCTGAGCGAGTGGACGGAGTGGTCATCCTGTTCCCAGTCCTGTTCAAATAAAAACTCAGATGGGAAACAGACCAGGTCAAGAACTATCCTGGCACTGGCTGGGGAAGGTGAGTAACAGAAAAGGTTTTCACTTTGGATTCATTAGCCCAATTATTATCATTTTTCCTCATTGGTGATAGAGAAGTTTATATGGAGGAAATAGTCACACATAGACGATATCTCTATTCCCTGAATCCAGATTAACAGTTTCA...
Task1_train_34391
A variant affecting Chromosome 2 has been observed. Determine if it's benign or associated with disease.
Benign
GTAACTCAGATAGGCATAGGTATATTTCTCTTGAGCATGCGTCTTTGGTGAAGTCTTTTATCTCCCATGTAAGGCTGCCCTCCTTGAGTGCAGAAGTAAGCCTACAAGCAGAGACGTAGTTTGACATGGTTATGTCAGCAGCAGCGAATCCATACAGGTCTGCGGCAATTTGACTCTTGCCTCCTCCGAGGAAATAATTCATCTGAGGGGCATAAGGCAGAATGTACTTATGCTTGTACTGAGGCAAGTATTTGAACAAGAGTGAAAGTTTATTAAAAAGTTTCAGAGCAGGAAAGAAAGGAAGTAAAGTACACTTGGAA...
GTAACTCAGATAGGCATAGGTATATTTCTCTTGAGCATGCGTCTTTGGTGAAGTCTTTTATCTCCCATGTAAGGCTGCCCTCCTTGAGTGCAGAAGTAAGCCTACAAGCAGAGACGTAGTTTGACATGGTTATGTCAGCAGCAGCGAATCCATACAGGTCTGCGGCAATTTGACTCTTGCCTCCTCCGAGGAAATAATTCATCTGAGGGGCATAAGGCAGAATGTACTTATGCTTGTACTGAGGCAAGTATTTGAACAAGAGTGAAAGTTTATTAAAAAGTTTCAGAGCAGGAAAGAAAGGAAGTAAAGTACACTTGGAA...
Task1_train_34392
This alteration occurs on Chromosome 2. Is it associated with a disease or is it a benign variant?
Benign
TCTTACACTAACCCTTACAGGCTGAATTTTCACCAGGGCAGGGATTCTTGCTTGGAAGTCCTGCCTTGCTCAATATTCTAAGAAATCTAGACTGCTAGTAGTTCCAAATATACTCTTTTATTTTCTGTGTGTGCATCTGTCATCTTGTCCCCTGTACCTGCAATCCCTCACTTCCCCACAGTTTCTGGGCTAACTCCCACTTACCCTGGGAGTGACAGAGTTCATGAGTGATCTTCCCCCATGAAGCATCATCACTCTGGCATCATCTCTCGTCCTCTCCCCATATGTTCTCTTCCCTCTTCCTACCTTGATTCAACTGA...
TCTTACACTAACCCTTACAGGCTGAATTTTCACCAGGGCAGGGATTCTTGCTTGGAAGTCCTGCCTTGCTCAATATTCTAAGAAATCTAGACTGCTAGTAGTTCCAAATATACTCTTTTATTTTCTGTGTGTGCATCTGTCATCTTGTCCCCTGTACCTGCAATCCCTCACTTCCCCACAGTTTCTGGGCTAACTCCCACTTACCCTGGGAGTGACAGAGTTCATGAGTGATCTTCCCCCATGAAGCATCATCACTCTGGCATCATCTCTCGTCCTCTCCCCATATGTTCTCTTCCCTCTTCCTACCTTGATTCAACTGA...
Task1_train_34393
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
ATGATAACTTAAGGCTGCTTTCAGTTTATGGGGTAATAACTGTAACCTGGGAGAAATAAAACCTAAAGCTATTAATAGATTCAGCTGCATTCACTAGAATAGGACACAGGTTTTGCTTCATAAATAGAAAAGACCACAGACTGCTATTAGCAAACAGGTAATGTTTCTTTCATTAGAAAGTGAAGCATATTGAATAGCATGAAATGAGAAGCTAAGCCAGCCATATTGATTTTGAAGAAAAAAAATTGTTCAGACACTCAAATATATATATATATATGTACACACACATATATATAGACACACACACACACACACATATA...
ATGATAACTTAAGGCTGCTTTCAGTTTATGGGGTAATAACTGTAACCTGGGAGAAATAAAACCTAAAGCTATTAATAGATTCAGCTGCATTCACTAGAATAGGACACAGGTTTTGCTTCATAAATAGAAAAGACCACAGACTGCTATTAGCAAACAGGTAATGTTTCTTTCATTAGAAAGTGAAGCATATTGAATAGCATGAAATGAGAAGCTAAGCCAGCCATATTGATTTTGAAGAAAAAAAATTGTTCAGACACTCAAATATATATATATATATGTACACACACATATATATAGACACACACACACACACACATATA...
Task1_train_34394
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
AGGAGGATCAGGGCAGAATGCAAGACCCTATACCAAAATTAAAGAACCTGACTCTTACTCTGATTATGCTATGGAAGTCTTTCCTTGTAGCTAAAGAGGAGAGAATTTCTAGATACCACTTGAAAAGGAGAGGGCTAAAGCTTAAAAAGAGTTGGGATGTTGAAATACGGTCTCACTACTTGTATAATGTAGGGCCAAAGCATTTATTATTGTTGTTTTTCCACATTCCTATATTTCTTCATCCATATGCACAATATTGAGATTTATCTTCCCTTTTCAAACACATTTAAGATATAATTCACATGACATAATTCACCCAT...
AGGAGGATCAGGGCAGAATGCAAGACCCTATACCAAAATTAAAGAACCTGACTCTTACTCTGATTATGCTATGGAAGTCTTTCCTTGTAGCTAAAGAGGAGAGAATTTCTAGATACCACTTGAAAAGGAGAGGGCTAAAGCTTAAAAAGAGTTGGGATGTTGAAATACGGTCTCACTACTTGTATAATGTAGGGCCAAAGCATTTATTATTGTTGTTTTTCCACATTCCTATATTTCTTCATCCATATGCACAATATTGAGATTTATCTTCCCTTTTCAAACACATTTAAGATATAATTCACATGACATAATTCACCCAT...
Task1_train_34395
A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
ATCAGCCTCTACTTGAGCTGTCTCTGTAGACTTCAGACATTGTCTGGGAGTTGTGGTTGAAGAGAGAGACAGGCACCATTCTGTCCTGTTTTTCCTCTCTTGCTTAGATATCATTTACCTTCAGTACAGTTCCCAGCCTCTCCTTCAGCCAATCCATAGCCTCTATACAGTATAGTTCCAGGAAATCTATGGCTGAATGGTTTGAGTTTTATTAGAGTGCCTGCCTACACATGCCACGTGTACATACAGGAATAACTGTTTTCATAGACTTGATAAAGTCTCAATATCACCAAATGACCCTATCTTTGCTCTTGATATCT...
ATCAGCCTCTACTTGAGCTGTCTCTGTAGACTTCAGACATTGTCTGGGAGTTGTGGTTGAAGAGAGAGACAGGCACCATTCTGTCCTGTTTTTCCTCTCTTGCTTAGATATCATTTACCTTCAGTACAGTTCCCAGCCTCTCCTTCAGCCAATCCATAGCCTCTATACAGTATAGTTCCAGGAAATCTATGGCTGAATGGTTTGAGTTTTATTAGAGTGCCTGCCTACACATGCCACGTGTACATACAGGAATAACTGTTTTCATAGACTTGATAAAGTCTCAATATCACCAAATGACCCTATCTTTGCTCTTGATATCT...
Task1_train_34396
Given this variant on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
TACAAGCATTCAAAAATATTTTTTAATCACCTTGGTTATTTTGCCTTTGGAATTACTAAATACTTTTCAACATCTCAACAAAATAATACAGTTTTGAAACTGCAGGCGTTAGAATGATTGTCATTCATGCAAATAATCACTTACTTACACTATATGAGTTTGGGTTGCATAAAGCAAATTACCATTTGAAAATAATTCAAATAACATTCTAGGCTAAGACCTTGCTTATGAATGTTATCTTGGCCACAATATTTCTTAACCTTTTTCTATTTAGCTAGATTCCTTTATGGTAATATCATCCAAATTAATAAACTACTCAA...
TACAAGCATTCAAAAATATTTTTTAATCACCTTGGTTATTTTGCCTTTGGAATTACTAAATACTTTTCAACATCTCAACAAAATAATACAGTTTTGAAACTGCAGGCGTTAGAATGATTGTCATTCATGCAAATAATCACTTACTTACACTATATGAGTTTGGGTTGCATAAAGCAAATTACCATTTGAAAATAATTCAAATAACATTCTAGGCTAAGACCTTGCTTATGAATGTTATCTTGGCCACAATATTTCTTAACCTTTTTCTATTTAGCTAGATTCCTTTATGGTAATATCATCCAAATTAATAAACTACTCAA...
Task1_train_34397
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
ATAATCAAAATAATTGCCACCTCTTTTCTTCATAGCAGAAAAACATTTGTCTCTTTACCTGAAATCCTTGTTTCCGCTGGTACTTTCTCCTTTGCTGCATATCAGCAAAAGTAGCTGCTCCAGTTGGGTAGGTGTAGGCCATATGTGGTAGGAAGCTCATCTGATCCAGTCCTGGGTATGGTCGTAGCCCAGGAATACTGGTCTGGACTGGTGGCATGAAAGTAGCAGGGGGAAATGCGCTTTGAGGTGGAAGAGCTGTGTATAAAGGTTTGGCACTAAATGGGTTCATGCTGAACACTGGGTTAGTGCTTTTGTTGTCC...
ATAATCAAAATAATTGCCACCTCTTTTCTTCATAGCAGAAAAACATTTGTCTCTTTACCTGAAATCCTTGTTTCCGCTGGTACTTTCTCCTTTGCTGCATATCAGCAAAAGTAGCTGCTCCAGTTGGGTAGGTGTAGGCCATATGTGGTAGGAAGCTCATCTGATCCAGTCCTGGGTATGGTCGTAGCCCAGGAATACTGGTCTGGACTGGTGGCATGAAAGTAGCAGGGGGAAATGCGCTTTGAGGTGGAAGAGCTGTGTATAAAGGTTTGGCACTAAATGGGTTCATGCTGAACACTGGGTTAGTGCTTTTGTTGTCC...
Task1_train_34398
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TTTTATTATTTCACATAAAACCAATATGAATATGTAACATTTAAAAATGTCAGAAACACCTACCCAGATCAACTGGGAACCAAAAGCCAAACTGAGCATACTTAACAAGAACTGTCTTTGGCTCAGTATAGGCCACTAGCTTCAACATCACATTCTAAACAGGAGGTAGAATATTAGATTTATAGATGGGGCATTTTGAAACTGCACTTCAAAGACCTACAGACTTTGGAAGGGACAAATTTACTCAACCTTTTAGATTAGATTAACATTTTATATTAATATTTTTATAGATTAATATATTATATTAATAATTTAGATTA...
TTTTATTATTTCACATAAAACCAATATGAATATGTAACATTTAAAAATGTCAGAAACACCTACCCAGATCAACTGGGAACCAAAAGCCAAACTGAGCATACTTAACAAGAACTGTCTTTGGCTCAGTATAGGCCACTAGCTTCAACATCACATTCTAAACAGGAGGTAGAATATTAGATTTATAGATGGGGCATTTTGAAACTGCACTTCAAAGACCTACAGACTTTGGAAGGGACAAATTTACTCAACCTTTTAGATTAGATTAACATTTTATATTAATATTTTTATAGATTAATATATTATATTAATAATTTAGATTA...
Task1_train_34399
Given this variant on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
ACAACATACATTTCTGTGGACTTTTTCTCATGTTCTTACAGCCTCTTTTTATGTTGTCTTCTCTACATAGTATATATGTTTTGTAAATGAACTCATTCTTTTTTGAAATTAGATGGCATACTAGTACTAATTAGGGTTCTTCAGAGAACCCTGCCCGAGAGAGCATATGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAGAAAGAGAGAGAGAGTAGGGGCAAGGGGATTTATTTTAAGGAATTTTCTCATACAATTGTGGGGCTTGGCAAGTATGAGATTCATAGGGCAGGCTACCAGGTTGGAG...
ACAACATACATTTCTGTGGACTTTTTCTCATGTTCTTACAGCCTCTTTTTATGTTGTCTTCTCTACATAGTATATATGTTTTGTAAATGAACTCATTCTTTTTTGAAATTAGATGGCATACTAGTACTAATTAGGGTTCTTCAGAGAACCCTGCCCGAGAGAGCATATGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAGAAAGAGAGAGAGAGTAGGGGCAAGGGGATTTATTTTAAGGAATTTTCTCATACAATTGTGGGGCTTGGCAAGTATGAGATTCATAGGGCAGGCTACCAGGTTGGAG...