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_48700
Consider this mutation on Chromosome 22. Is this a benign change or a disease-causing variant?
Benign
AACCTGGGCCTCCTCTTCATGCTGCTCTTCTTCATCTATGCTGCTCTCGGGGTGGAGCTCTTTGGGAAGCTGGGTGAGTGACTCCCAGAGCAGGCCCGTGGTGGGGGTGCAGCAGGGCTGCAGGAGGAACTGGGGGGGCGGGGGAGGCCTGAGACCCCTGAGCCCGTCACATCAGGGTCTTTGTATTGGGGAGATGCCTACAGCAGGGCCCTCAGCTGTCTGGTCTCCCAGGAAAACTGCCCTCCCTACCCCGGTGTTGGTGCCTGTCCTGAGCCAGCGCCACCCCAGCAAGTGGAGAGGCCAGGGCAGGGGAAAGAGCA...
AACCTGGGCCTCCTCTTCATGCTGCTCTTCTTCATCTATGCTGCTCTCGGGGTGGAGCTCTTTGGGAAGCTGGGTGAGTGACTCCCAGAGCAGGCCCGTGGTGGGGGTGCAGCAGGGCTGCAGGAGGAACTGGGGGGGCGGGGGAGGCCTGAGACCCCTGAGCCCGTCACATCAGGGTCTTTGTATTGGGGAGATGCCTACAGCAGGGCCCTCAGCTGTCTGGTCTCCCAGGAAAACTGCCCTCCCTACCCCGGTGTTGGTGCCTGTCCTGAGCCAGCGCCACCCCAGCAAGTGGAGAGGCCAGGGCAGGGGAAAGAGCA...
Task1_train_48701
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
GAAGACAGGAGCCTGCAGGCAGGGTCCATACACAAGGGGGCTCTTCCTCTGCAGAAGCAAGGACCTGGCACGGAGGCTGGCCCAACCCAGGTGACAGGGCCTTCTGCTCTTCCCAACAGAACATCCGTGTCCGCTCTGTGACAGGCGTCGGCTTCTACATGCCCATGGGGAGGATCAAGGGGACCCTGTCATCAAGGTTCCTGATGGTGGACGGTGACAAAGTGGCCACTGGATCTTACAGGTGAGTTGGGCCGGATCAAAGAAGGGCCCAGGAGGCCTTGATTCCAGGTAGGTGTTCAGGAAGATGCCAGACCGGAGCC...
GAAGACAGGAGCCTGCAGGCAGGGTCCATACACAAGGGGGCTCTTCCTCTGCAGAAGCAAGGACCTGGCACGGAGGCTGGCCCAACCCAGGTGACAGGGCCTTCTGCTCTTCCCAACAGAACATCCGTGTCCGCTCTGTGACAGGCGTCGGCTTCTACATGCCCATGGGGAGGATCAAGGGGACCCTGTCATCAAGGTTCCTGATGGTGGACGGTGACAAAGTGGCCACTGGATCTTACAGGTGAGTTGGGCCGGATCAAAGAAGGGCCCAGGAGGCCTTGATTCCAGGTAGGTGTTCAGGAAGATGCCAGACCGGAGCC...
Task1_train_48702
Here’s a variant located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Benign
GGAGAAGCCCGCCTGGGGTCTGCCTCCCTCCCAGGGTGTCACAAGGTCTTGTTATTGTGGGTGCCGATGGCTGCCTGACAGATCGAGAAGGACCTGCTCCGCACCATGCCCAGCAACGCCTGCTTCGCCAGCATGGGTAGCATCGGGGTGCCCCGCCTGCGCAGGGTGCTCCGGGCCCTGGCCTGGCTCTACCCAGAGATCGGCTACTGCCAGGGCACCGGCATGGTGAGCACAGCCCCAGAAAGGGCAGTGGCAGCCCCAGGACCCCCTCCAGGACCCTAACAAGGAGTGGCCTCCCGCTACGGGGCAGTAGCCCCAGG...
GGAGAAGCCCGCCTGGGGTCTGCCTCCCTCCCAGGGTGTCACAAGGTCTTGTTATTGTGGGTGCCGATGGCTGCCTGACAGATCGAGAAGGACCTGCTCCGCACCATGCCCAGCAACGCCTGCTTCGCCAGCATGGGTAGCATCGGGGTGCCCCGCCTGCGCAGGGTGCTCCGGGCCCTGGCCTGGCTCTACCCAGAGATCGGCTACTGCCAGGGCACCGGCATGGTGAGCACAGCCCCAGAAAGGGCAGTGGCAGCCCCAGGACCCCCTCCAGGACCCTAACAAGGAGTGGCCTCCCGCTACGGGGCAGTAGCCCCAGG...
Task1_train_48703
This alteration on Chromosome 22 may affect genome function. Does it lead to a disease or is it benign?
Benign
CTGACAGATCGAGAAGGACCTGCTCCGCACCATGCCCAGCAACGCCTGCTTCGCCAGCATGGGTAGCATCGGGGTGCCCCGCCTGCGCAGGGTGCTCCGGGCCCTGGCCTGGCTCTACCCAGAGATCGGCTACTGCCAGGGCACCGGCATGGTGAGCACAGCCCCAGAAAGGGCAGTGGCAGCCCCAGGACCCCCTCCAGGACCCTAACAAGGAGTGGCCTCCCGCTACGGGGCAGTAGCCCCAGGGCCTCCTCCAGGACCCCTAACAAGGAGTGGCCTCCCACTCCGGGGCGTCCCCAAGGAGATCGGGGCAGCTGCAC...
CTGACAGATCGAGAAGGACCTGCTCCGCACCATGCCCAGCAACGCCTGCTTCGCCAGCATGGGTAGCATCGGGGTGCCCCGCCTGCGCAGGGTGCTCCGGGCCCTGGCCTGGCTCTACCCAGAGATCGGCTACTGCCAGGGCACCGGCATGGTGAGCACAGCCCCAGAAAGGGCAGTGGCAGCCCCAGGACCCCCTCCAGGACCCTAACAAGGAGTGGCCTCCCGCTACGGGGCAGTAGCCCCAGGGCCTCCTCCAGGACCCCTAACAAGGAGTGGCCTCCCACTCCGGGGCGTCCCCAAGGAGATCGGGGCAGCTGCAC...
Task1_train_48704
Here’s a variant located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Benign
GAAAATTTATCATTTTCTTTATCATTGGAGGGGAGGGAAAGAAAGCAAGCAGAGGTGGGGATATAGTTACACTATTTAAGAGCTGAATACAAAGACAATGAGTCTTTCATAGTCTCAACAACTCCACAATGAATAACTGTGGATTATCTCATTTATAATTCACATTGGATAAAAAAAATCGGTTCCCCTCTGTGTGTATCAATTTAATTCAAACCTTATCTTCAGAATACAAAGATGAATACTACAAGATAAACTAACTGCAATAGGTTTTTCTAAGTAGAAGACCAAACACCAAAGGGAATCCCTCTTTCCAATGTCTT...
GAAAATTTATCATTTTCTTTATCATTGGAGGGGAGGGAAAGAAAGCAAGCAGAGGTGGGGATATAGTTACACTATTTAAGAGCTGAATACAAAGACAATGAGTCTTTCATAGTCTCAACAACTCCACAATGAATAACTGTGGATTATCTCATTTATAATTCACATTGGATAAAAAAAATCGGTTCCCCTCTGTGTGTATCAATTTAATTCAAACCTTATCTTCAGAATACAAAGATGAATACTACAAGATAAACTAACTGCAATAGGTTTTTCTAAGTAGAAGACCAAACACCAAAGGGAATCCCTCTTTCCAATGTCTT...
Task1_train_48705
This mutation is located on Chromosome 22. Is it associated with a disease or is it a benign polymorphism?
Benign
ATTCCAGCCCCTGTTCCTACACCTCCTGCCATGCCACCTGGGCCACAGTCCCAGGCTCTACATCCCCCTCCAAGGCAGACACCTACACCACCAACAACACAACTTCCCCAACAAGTGCAGCCTTCACTTCCTGCTGCACCTTCTGCTGACCAGCCCCAGCAGCAGCCTCGCTCACAGCAGAGCACAGCAGCGTCTGTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATT...
ATTCCAGCCCCTGTTCCTACACCTCCTGCCATGCCACCTGGGCCACAGTCCCAGGCTCTACATCCCCCTCCAAGGCAGACACCTACACCACCAACAACACAACTTCCCCAACAAGTGCAGCCTTCACTTCCTGCTGCACCTTCTGCTGACCAGCCCCAGCAGCAGCCTCGCTCACAGCAGAGCACAGCAGCGTCTGTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATT...
Task1_train_48706
A mutation located on Chromosome 22 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
ATTTGGTTTCTGGGCACCTTATATTTAAGAGACGGGGTGTTCCTATGTTGCCCTGGCTGGAATGCAGTGGTTACTCACAGGCGTGATGACAACGCACTGCAGCCTCTAACTCTTGGGCTCAAGCAATCCTTACACCTCAGCCTCCTAAGTAGCTGGGACTATAGGTGGTCTCTGTCACCCTGCCTGACAAGGGTACCTATATTTGAATTGTTTCCTTGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA...
ATTTGGTTTCTGGGCACCTTATATTTAAGAGACGGGGTGTTCCTATGTTGCCCTGGCTGGAATGCAGTGGTTACTCACAGGCGTGATGACAACGCACTGCAGCCTCTAACTCTTGGGCTCAAGCAATCCTTACACCTCAGCCTCCTAAGTAGCTGGGACTATAGGTGGTCTCTGTCACCCTGCCTGACAAGGGTACCTATATTTGAATTGTTTCCTTGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA...
Task1_train_48707
Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
ATTAGAAATTGCTGTGTCCCAGATCCTTCTGCTTACTGCTTCATACACTGTCGCCTTTGTGAGACAATTACCATTGTTTCCCCATTTTGTAGATTTTACTTAAGGCACCGAAAGATCCCTCTCTTCCGAGAGCTAAGAATAATATTGGTAATATTAATAGCTATGGTTTGGGAGTACTTGCTAAGGGCTTGACATTCTCAGTCCAATTAACGATCTTAAAAAATTTGATTTTTAAAAAAATTCCTTTTTATAAAGGCTCAGAAATTTTAGTAACTTACTTAAAGGTATACAACTAAAAACTGTAGAACTGGGATTTGCCC...
ATTAGAAATTGCTGTGTCCCAGATCCTTCTGCTTACTGCTTCATACACTGTCGCCTTTGTGAGACAATTACCATTGTTTCCCCATTTTGTAGATTTTACTTAAGGCACCGAAAGATCCCTCTCTTCCGAGAGCTAAGAATAATATTGGTAATATTAATAGCTATGGTTTGGGAGTACTTGCTAAGGGCTTGACATTCTCAGTCCAATTAACGATCTTAAAAAATTTGATTTTTAAAAAAATTCCTTTTTATAAAGGCTCAGAAATTTTAGTAACTTACTTAAAGGTATACAACTAAAAACTGTAGAACTGGGATTTGCCC...
Task1_train_48708
Located on Chromosome 22, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
CACCCCCTGAGCTCAGGATTGTTATTGTCATCACTGTTTCACACATGAAGAAACTGAAGCCCAAAAGAGGTTAAGTCACTGGCCCAAGCCCAGGACTTCAACTTGGCGGCCCAAATCCAGACTCATGATCCCAGCCGCCAGGCTACACATAGCCTCTGTCCTCCTCTCCAGGGAAAACCACCGACCAAAAAAGCCAAAGTCCTGCACAAGGCTGCCTGGTCTGCCAAAATTGGAGCCTTCCTCCACTCTCAAGGGACAGGACAGCTGGCAGATGGGACACCAACAGGACAAGACGGTAAGATAGCAGAGGGCCCTGCTTA...
CACCCCCTGAGCTCAGGATTGTTATTGTCATCACTGTTTCACACATGAAGAAACTGAAGCCCAAAAGAGGTTAAGTCACTGGCCCAAGCCCAGGACTTCAACTTGGCGGCCCAAATCCAGACTCATGATCCCAGCCGCCAGGCTACACATAGCCTCTGTCCTCCTCTCCAGGGAAAACCACCGACCAAAAAAGCCAAAGTCCTGCACAAGGCTGCCTGGTCTGCCAAAATTGGAGCCTTCCTCCACTCTCAAGGGACAGGACAGCTGGCAGATGGGACACCAACAGGACAAGACGGTAAGATAGCAGAGGGCCCTGCTTA...
Task1_train_48709
Given a variant located on Chromosome 22, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GACTTCAACTTGGCGGCCCAAATCCAGACTCATGATCCCAGCCGCCAGGCTACACATAGCCTCTGTCCTCCTCTCCAGGGAAAACCACCGACCAAAAAAGCCAAAGTCCTGCACAAGGCTGCCTGGTCTGCCAAAATTGGAGCCTTCCTCCACTCTCAAGGGACAGGACAGCTGGCAGATGGGACACCAACAGGACAAGACGGTAAGATAGCAGAGGGCCCTGCTTAGGAAGCTGCCGTGGCTGGGGAGGAGACTGGGTTTGGGGTGGCCTTTCCTAGGAATGAAGACTGGGCAAACCGGCCAGGTAGAAAGTGCCCTAA...
GACTTCAACTTGGCGGCCCAAATCCAGACTCATGATCCCAGCCGCCAGGCTACACATAGCCTCTGTCCTCCTCTCCAGGGAAAACCACCGACCAAAAAAGCCAAAGTCCTGCACAAGGCTGCCTGGTCTGCCAAAATTGGAGCCTTCCTCCACTCTCAAGGGACAGGACAGCTGGCAGATGGGACACCAACAGGACAAGACGGTAAGATAGCAGAGGGCCCTGCTTAGGAAGCTGCCGTGGCTGGGGAGGAGACTGGGTTTGGGGTGGCCTTTCCTAGGAATGAAGACTGGGCAAACCGGCCAGGTAGAAAGTGCCCTAA...
Task1_train_48710
A variant found on Chromosome 22 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTAAAACCCCTTCTCTACTAAAAATACAAAAGTTAGCCATGCGTGGTGGCACGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAGAAAAAAAAAGGGGGGGTGGAATTTGGGCAGAGACAGATTATAGAGGGAAGATG...
ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTAAAACCCCTTCTCTACTAAAAATACAAAAGTTAGCCATGCGTGGTGGCACGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAGAAAAAAAAAGGGGGGGTGGAATTTGGGCAGAGACAGATTATAGAGGGAAGATG...
Task1_train_48711
Located on Chromosome 22, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTAAAACCCCTTCTCTACTAAAAATACAAAAGTTAGCCATGCGTGGTGGCACGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAGAAAAAAAAAGGGGGGGTGGAATTTGGGCAGAGACAGATTATAGAGGGAAGATGATGATACACAACATCACGTGAAGGTTGGGACA...
GGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTAAAACCCCTTCTCTACTAAAAATACAAAAGTTAGCCATGCGTGGTGGCACGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAGAAAAAAAAAGGGGGGGTGGAATTTGGGCAGAGACAGATTATAGAGGGAAGATGATGATACACAACATCACGTGAAGGTTGGGACA...
Task1_train_48712
Here’s a variant located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Benign
AGGTCCAGCCGCTGGGTCAGCTGGGGACAGCGAGGAGAAAGTGGGGCTGAGCCAGGCAGGGACCCCGCCTTTGCAAGTGCTGCTTCTTCCCCGGAACACTCTTTTCTCCTGTCACCTTTCCCATATTTCTCTTCATCCGACCCCTGACACCTCCTCCAGGAAGCCTTCCTCTCCAGTGCCCTGGGCATCACCCACTGTGGCATTTTTCACACTGTGCTGTCCCTGCCTCCTCGCTCTCTCTCCTCCACTAGCTGATGACTCTGCAGAGCAGAGACCACACCTCACCCTGCCACAGCCCGCCTCTCCACCACAGGGTCTGC...
AGGTCCAGCCGCTGGGTCAGCTGGGGACAGCGAGGAGAAAGTGGGGCTGAGCCAGGCAGGGACCCCGCCTTTGCAAGTGCTGCTTCTTCCCCGGAACACTCTTTTCTCCTGTCACCTTTCCCATATTTCTCTTCATCCGACCCCTGACACCTCCTCCAGGAAGCCTTCCTCTCCAGTGCCCTGGGCATCACCCACTGTGGCATTTTTCACACTGTGCTGTCCCTGCCTCCTCGCTCTCTCTCCTCCACTAGCTGATGACTCTGCAGAGCAGAGACCACACCTCACCCTGCCACAGCCCGCCTCTCCACCACAGGGTCTGC...
Task1_train_48713
An alteration has been detected on Chromosome 22. Is it pathogenic, and if so, what disease is involved?
Benign
ATTTTTCACACTGTGCTGTCCCTGCCTCCTCGCTCTCTCTCCTCCACTAGCTGATGACTCTGCAGAGCAGAGACCACACCTCACCCTGCCACAGCCCGCCTCTCCACCACAGGGTCTGCAGTGAATTCAGTATCGATCTATGGGTCACCTACTTATTCCATTCACACAGTAAGGATTTTAAATAGATCATCTCCCTGTTACTGGTTTTTATTATTCCCATTTTACAGAAGTGTAAACTGAGGCTCAAAGAGAAGTAATTTGCCAAGGTCTCCCGGGCAGGCGGTGGCAGATCAACTGGTGCCCAGCCCAGGCTCCTCCCT...
ATTTTTCACACTGTGCTGTCCCTGCCTCCTCGCTCTCTCTCCTCCACTAGCTGATGACTCTGCAGAGCAGAGACCACACCTCACCCTGCCACAGCCCGCCTCTCCACCACAGGGTCTGCAGTGAATTCAGTATCGATCTATGGGTCACCTACTTATTCCATTCACACAGTAAGGATTTTAAATAGATCATCTCCCTGTTACTGGTTTTTATTATTCCCATTTTACAGAAGTGTAAACTGAGGCTCAAAGAGAAGTAATTTGCCAAGGTCTCCCGGGCAGGCGGTGGCAGATCAACTGGTGCCCAGCCCAGGCTCCTCCCT...
Task1_train_48714
A mutation located on Chromosome 22 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
CACTATCTAGCAACCCCCAAATCAACCTCACCTCTTCTGAAGGGACCTGTCTCATGCGTAAAGCCAGCTAAGCATCCTCTTTCTGGCTCCTTCTCAGCCCATCACCTTCTGATGCTCCACGGATAAAGACCAATACCTCAACTCCGACATCCTACAGGGCTGTGTGGCCTGGCCCCCACCCACCTGTCCAGCCCACCCTCCCCTCTGCCCAAGCCACACCAGCCTCTTCCACACCATGGTGGGTATTTTACCCCTTCTTCTTTTTTTTTTGAAGCGAAGTTTCACTCTTGTCACCCAGGCTGGAAGGCAGTGGTGCGATT...
CACTATCTAGCAACCCCCAAATCAACCTCACCTCTTCTGAAGGGACCTGTCTCATGCGTAAAGCCAGCTAAGCATCCTCTTTCTGGCTCCTTCTCAGCCCATCACCTTCTGATGCTCCACGGATAAAGACCAATACCTCAACTCCGACATCCTACAGGGCTGTGTGGCCTGGCCCCCACCCACCTGTCCAGCCCACCCTCCCCTCTGCCCAAGCCACACCAGCCTCTTCCACACCATGGTGGGTATTTTACCCCTTCTTCTTTTTTTTTTGAAGCGAAGTTTCACTCTTGTCACCCAGGCTGGAAGGCAGTGGTGCGATT...
Task1_train_48715
A mutation on Chromosome 22 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GGCGAGCGTCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGAAGGCAGAGGTTGCAATGAGCTGATATTGTGCCATTGCACTCCAGCTTGGGCGACAGAGTGAGACTCAGTGTTTTTTTTTTGTTTTTTTTTTTTTGAGACGGAGACTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAAATTCAGGTGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA...
GGCGAGCGTCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGAAGGCAGAGGTTGCAATGAGCTGATATTGTGCCATTGCACTCCAGCTTGGGCGACAGAGTGAGACTCAGTGTTTTTTTTTTGTTTTTTTTTTTTTGAGACGGAGACTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAAATTCAGGTGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA...
Task1_train_48716
Chromosome 22 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
ACAGCATTGAGGAAGAGTTAAACATCCACATTTCAAGAGGAACAAGAACCAGAACACTCCTCAGCAGCAGTGAGCCATGGGCCTGCCCTCCCCACCTCTGCAAGCTGCAGGGCCATTAGTGAGAATCTGATTGGCCATCCTGGATCTGTCAGCCTTGCTGGGGCTATGGGTCTCAGAATATAGATGTGATTTTGAGAGGCCTGTTCCTTGAGTATAACATCCCAAGATGTATATCCTAGAGGCAGGTTCAGGTGTGTGTTTTACAAGCATCATTATGGTGGCTGTGAAGGATAGGTAGGAGGGAGATGTGAAATGCATGG...
ACAGCATTGAGGAAGAGTTAAACATCCACATTTCAAGAGGAACAAGAACCAGAACACTCCTCAGCAGCAGTGAGCCATGGGCCTGCCCTCCCCACCTCTGCAAGCTGCAGGGCCATTAGTGAGAATCTGATTGGCCATCCTGGATCTGTCAGCCTTGCTGGGGCTATGGGTCTCAGAATATAGATGTGATTTTGAGAGGCCTGTTCCTTGAGTATAACATCCCAAGATGTATATCCTAGAGGCAGGTTCAGGTGTGTGTTTTACAAGCATCATTATGGTGGCTGTGAAGGATAGGTAGGAGGGAGATGTGAAATGCATGG...
Task1_train_48717
This sequence variant lies on Chromosome 22. Is it clinically significant, and what condition might it cause if any?
Benign
AATGAGAGCCCTATGTTAACTCTGACCTGGCCTTTCCTCCTAGACCAAGTGCGTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCACTCAGGTTGGAGTGCAGTGGCGCAATCTTGGCACACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGTGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA...
AATGAGAGCCCTATGTTAACTCTGACCTGGCCTTTCCTCCTAGACCAAGTGCGTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCACTCAGGTTGGAGTGCAGTGGCGCAATCTTGGCACACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGTGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA...
Task1_train_48718
A variant was discovered on Chromosome 22. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TCAGTTCAGGTCTTCACAGTGCTTTTGCCCCAGGGGTCCAGGGCGTTAGGAGTGTAGATGCCAGCATCTTCTCTGGATCCCAGGTTCATACCTGTGGCTCCAGTTCACAGTCACCCCCTCCCAAACAGCACTCAGAGGCAGGAAACTATGGTTTTCAGAGAAGTAGGGCAATGAGTAATTGAATGTCTTCCTCAAGCCCTAGCTGTGTGACCCAGGTGAGGACCCTTCTTAATGCCCAGAAGAACAAGCAATGAGTGGCCCAGGCACCAGGGATGGTGGGGAGTCACCTTTCAGATGCACAGTGGCCCCTGAGGCAGCTC...
TCAGTTCAGGTCTTCACAGTGCTTTTGCCCCAGGGGTCCAGGGCGTTAGGAGTGTAGATGCCAGCATCTTCTCTGGATCCCAGGTTCATACCTGTGGCTCCAGTTCACAGTCACCCCCTCCCAAACAGCACTCAGAGGCAGGAAACTATGGTTTTCAGAGAAGTAGGGCAATGAGTAATTGAATGTCTTCCTCAAGCCCTAGCTGTGTGACCCAGGTGAGGACCCTTCTTAATGCCCAGAAGAACAAGCAATGAGTGGCCCAGGCACCAGGGATGGTGGGGAGTCACCTTTCAGATGCACAGTGGCCCCTGAGGCAGCTC...
Task1_train_48719
This is a variant located on Chromosome 22. Is this mutation a likely cause of disease or not?
Benign
GGAGTCAGGATGTGACTGAGCATGTGGCTGAATCCCTCAGCTATGAGCCACATCCTTCTCTGAAGGGTAGTCACAGCAGGCTACCCTGAGACCAGAGCAGCCCGGTGAGGCCCAATTGCAGCTGGTCCCGTGCACAGCTCCATCATTTTCAGGGATGGCCACTGCCCACAGCCTCAGCCTGGCTCCACTGGGATGGAGATCCAGGGCCCTTGGAACTGAGAATGAGCAGGGGGAATTGCCCACTCTTGGCACAGCCCAGCAGGGGGTGGGAGGTGGGGTGAGAAGCAACCAGATTCCTTTGTGAGTCTGTGTAGGCTCCA...
GGAGTCAGGATGTGACTGAGCATGTGGCTGAATCCCTCAGCTATGAGCCACATCCTTCTCTGAAGGGTAGTCACAGCAGGCTACCCTGAGACCAGAGCAGCCCGGTGAGGCCCAATTGCAGCTGGTCCCGTGCACAGCTCCATCATTTTCAGGGATGGCCACTGCCCACAGCCTCAGCCTGGCTCCACTGGGATGGAGATCCAGGGCCCTTGGAACTGAGAATGAGCAGGGGGAATTGCCCACTCTTGGCACAGCCCAGCAGGGGGTGGGAGGTGGGGTGAGAAGCAACCAGATTCCTTTGTGAGTCTGTGTAGGCTCCA...
Task1_train_48720
This mutation is located on Chromosome 22. Is it associated with a disease or is it a benign polymorphism?
Benign
CCAAGCGACCTGCAGGCCAGGGGCTGGCCCACAGCCAGTGGTCAGTGAGCATCAGCCAGGTTCAGCCAACTCAAGCTGCAGAGTGGCGGCTGGAGGGGGCTCACCTTCAGTACAGGGCATGGACCCCCCACTGGGCCTTGGACCCAACAGCCCTCTCTCCTGTGCCCGGGCCTTTCTATGGCTGAAGTCTAACTGTTCCCTCTCTCCCAGGGCTCCCACGGGGGTGGGCATTAACCCTGACATTCAACCCTGGCCCCCCTCTCCAGCCACTTCCCCCTGGCTCTGGCCGGTGCACTGGAGCAGTCCTCCAACCTTGCACT...
CCAAGCGACCTGCAGGCCAGGGGCTGGCCCACAGCCAGTGGTCAGTGAGCATCAGCCAGGTTCAGCCAACTCAAGCTGCAGAGTGGCGGCTGGAGGGGGCTCACCTTCAGTACAGGGCATGGACCCCCCACTGGGCCTTGGACCCAACAGCCCTCTCTCCTGTGCCCGGGCCTTTCTATGGCTGAAGTCTAACTGTTCCCTCTCTCCCAGGGCTCCCACGGGGGTGGGCATTAACCCTGACATTCAACCCTGGCCCCCCTCTCCAGCCACTTCCCCCTGGCTCTGGCCGGTGCACTGGAGCAGTCCTCCAACCTTGCACT...
Task1_train_48721
This variant lies on Chromosome 22. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CAAAACAAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCAGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGTGCGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAAGGAGTCGGAGGTTACAGTGAGGCGAGATCGCGCCACTGTACTCCAGCCTGGCGACAGAGCAAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAA...
CAAAACAAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCAGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGTGCGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAAGGAGTCGGAGGTTACAGTGAGGCGAGATCGCGCCACTGTACTCCAGCCTGGCGACAGAGCAAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAA...
Task1_train_48722
A mutation located on Chromosome 22 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
TTCCTCACACTGGGGTCTGTCAGGGCAGAGCTGTTCCTGGCTCCGACCAGGGTCTCAGGGGCAGGACTATGTCTCCCTCCCCAGCCTGAGCTCCTCAGCGCAAACTCTTTTCCACTCTGTCTCCGTTTCCCCTTAAAGCCCTTCTCTCCCCCTCAGGGGCCATGCATCTCCCCCTAGACCGTCCCGACACCCCAGCCCCTGCGCCCCGCTCAGACTGGTTCCCCTACACACGGAACTCACCGTCCTTGTCTCCGTCGGGGGCCTCTGCGGAGGACGCGCCGCGAAGCCGCCGCTGTCGCCGCCTCCAGCTCACCAGACCC...
TTCCTCACACTGGGGTCTGTCAGGGCAGAGCTGTTCCTGGCTCCGACCAGGGTCTCAGGGGCAGGACTATGTCTCCCTCCCCAGCCTGAGCTCCTCAGCGCAAACTCTTTTCCACTCTGTCTCCGTTTCCCCTTAAAGCCCTTCTCTCCCCCTCAGGGGCCATGCATCTCCCCCTAGACCGTCCCGACACCCCAGCCCCTGCGCCCCGCTCAGACTGGTTCCCCTACACACGGAACTCACCGTCCTTGTCTCCGTCGGGGGCCTCTGCGGAGGACGCGCCGCGAAGCCGCCGCTGTCGCCGCCTCCAGCTCACCAGACCC...
Task1_train_48723
This mutation is located on Chromosome 22. Is it associated with a disease or is it a benign polymorphism?
Benign
GACTCACAAATACATACACATAAGACTTAGTTATAACTGAGTATGCAGAAACTCAGCAAAAGCAAAAGCAGGGCAGCACGTGCTAGAGCCTGGCATATAAGATGCACTCCAGATGAAAGCACATCATCCTCACTTCACACCTGTGTACCCCAAGGCTCAGGGTGACCTGCCCAGGTCATAGCCAGTGAGTAGAAAAGCCACTCAAACCAGGATCCTGTGTCTCCCTCCCCTTCAGGAGCTGCCTCGCTCGGATACTAAGTCCTTCGATAAGCATTCCCAATGTGCCCACTGTGTGCTGACCACCCTTTCCCCGCACCCGA...
GACTCACAAATACATACACATAAGACTTAGTTATAACTGAGTATGCAGAAACTCAGCAAAAGCAAAAGCAGGGCAGCACGTGCTAGAGCCTGGCATATAAGATGCACTCCAGATGAAAGCACATCATCCTCACTTCACACCTGTGTACCCCAAGGCTCAGGGTGACCTGCCCAGGTCATAGCCAGTGAGTAGAAAAGCCACTCAAACCAGGATCCTGTGTCTCCCTCCCCTTCAGGAGCTGCCTCGCTCGGATACTAAGTCCTTCGATAAGCATTCCCAATGTGCCCACTGTGTGCTGACCACCCTTTCCCCGCACCCGA...
Task1_train_48724
This mutation on Chromosome 22 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
AGGGGATGGGGAGTCGGGTGATGCCCTCGGACACCCTGTCCTCTGGCCTGCTCTGTGTGTGGGTGTGCACACTGAGGGGAGCTGTTTGTGGCTAAGTGCAGGGTAAACGTGTGTGCCCAAGTGGATGTGGCTGTGCAGGAGGGGGCAGAAGTTCAGGGCTGCAGTGATAGGCCAGGTGGGAAAGGGTTGGAGGCCAGGACAGTCTTGGATACAAATATATGGCTGGAGAGGGATGAGGGGCTGGGGGCACCATTGTGAGGGGTGATGCCTTCCCTGTCCGGTGCCCTGCCTTCCCCGTCCCTGCTGCAGACCTCAAGGAC...
AGGGGATGGGGAGTCGGGTGATGCCCTCGGACACCCTGTCCTCTGGCCTGCTCTGTGTGTGGGTGTGCACACTGAGGGGAGCTGTTTGTGGCTAAGTGCAGGGTAAACGTGTGTGCCCAAGTGGATGTGGCTGTGCAGGAGGGGGCAGAAGTTCAGGGCTGCAGTGATAGGCCAGGTGGGAAAGGGTTGGAGGCCAGGACAGTCTTGGATACAAATATATGGCTGGAGAGGGATGAGGGGCTGGGGGCACCATTGTGAGGGGTGATGCCTTCCCTGTCCGGTGCCCTGCCTTCCCCGTCCCTGCTGCAGACCTCAAGGAC...
Task1_train_48725
This sequence change occurs on Chromosome 22. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
GGGGACCATGGCTTGTTCACCAGATAAGCTCCTTCTGTGAACACTCACTGCCTCTCCATTTCCCATCCTCACCTTCTCCAGGGCTGGCTCTGTTTCTGACTCCAGCACTAGGCCAGCTCAGGGCTCTTTCTTGGTTCTGGGGCTCTAAGCCAAATTGGTCCTCTCTCATCCTGCCACCTGGACACCTGAGCTCCTATGTTGGCTGCTGTGGGTGGGAACCCACAGCCCTTTGGTTCTTTCTGGAAGAGAAAGGGAGAGACGTCTCCAGTAAGCACTGCCCTCCTCTGGAGTCCCTGAACATGTATGTGACCTCCATAGAG...
GGGGACCATGGCTTGTTCACCAGATAAGCTCCTTCTGTGAACACTCACTGCCTCTCCATTTCCCATCCTCACCTTCTCCAGGGCTGGCTCTGTTTCTGACTCCAGCACTAGGCCAGCTCAGGGCTCTTTCTTGGTTCTGGGGCTCTAAGCCAAATTGGTCCTCTCTCATCCTGCCACCTGGACACCTGAGCTCCTATGTTGGCTGCTGTGGGTGGGAACCCACAGCCCTTTGGTTCTTTCTGGAAGAGAAAGGGAGAGACGTCTCCAGTAAGCACTGCCCTCCTCTGGAGTCCCTGAACATGTATGTGACCTCCATAGAG...
Task1_train_48726
A mutation on Chromosome 22 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GCCTGGCATGGTGGCAGGCGACTTAATCCCAGCTATTTGGGAGGCAGAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGAGCCATTGCACTCAAACCTGGGGGACAAGAGCAAGACTTCTCTCAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCTTGCCTACGGTCCCAGCTACTCAGGAGGCTGAATGGGAGGATCACCTGAGCCCAGGAGGTGGAGGTTGGTGAGCAGAGATTATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAA...
GCCTGGCATGGTGGCAGGCGACTTAATCCCAGCTATTTGGGAGGCAGAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGAGCCATTGCACTCAAACCTGGGGGACAAGAGCAAGACTTCTCTCAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCTTGCCTACGGTCCCAGCTACTCAGGAGGCTGAATGGGAGGATCACCTGAGCCCAGGAGGTGGAGGTTGGTGAGCAGAGATTATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAA...
Task1_train_48727
This variant is located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Benign
AGATCGCGCCATTGCCCTCCAGCCTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCC...
AGATCGCGCCATTGCCCTCCAGCCTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCC...
Task1_train_48728
Consider this mutation on Chromosome 22. Is this a benign change or a disease-causing variant?
Benign
GTAAGACCACTGACCCAGCGTGCTGCAGGGGGCTGCTTCCACCCTGCTTCTCAGTGACTGCCAGGGTCACAGACACCCCAGCCCTTTCCCACCTTCCTGACCTGGGGAGGGGAGGGGAGGGAAGCAGCCCAGGAGTCAGGTGCCTTGACCTTCCTGGGAGCCTCCTTGGGTGGGCAGGAACTCTGGGCCACTCCCCTGAGCTGGCTGCATCCCTACCTTTCACCACAGCTGACCTGGCCCCGGGGCATCTCAGAGGGAGGGTTGGTTGCTCCCAGGAGGGGACTCACAAGGCTGCCTGTTTCTACTTTGCAGAGGCCTCT...
GTAAGACCACTGACCCAGCGTGCTGCAGGGGGCTGCTTCCACCCTGCTTCTCAGTGACTGCCAGGGTCACAGACACCCCAGCCCTTTCCCACCTTCCTGACCTGGGGAGGGGAGGGGAGGGAAGCAGCCCAGGAGTCAGGTGCCTTGACCTTCCTGGGAGCCTCCTTGGGTGGGCAGGAACTCTGGGCCACTCCCCTGAGCTGGCTGCATCCCTACCTTTCACCACAGCTGACCTGGCCCCGGGGCATCTCAGAGGGAGGGTTGGTTGCTCCCAGGAGGGGACTCACAAGGCTGCCTGTTTCTACTTTGCAGAGGCCTCT...
Task1_train_48729
Mutation context: Chromosome 22. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TGCCTTATGGGTCCAAGGTTGACTCCTGTCCCTAGGGCAGGCCTGTGGGCCCTGCCTGATCCCTACTGGGAGGATGGTACCTAGGGTTGGAGCCAAACAAGTGTCCTCCTCCAGCGCCAGCCTGGCCCTGAGTGCGAACTCGTCACTGGTCAGGGGTCTGTACAGCAGCATCCCTGAGGGCCCAGAGAGGTAGCCAGTCCTGTGGTGAGGTGACGAGGCTGAGGGTGGTGGCTCAGTCCTGGGCTTCCATGGGGCCTTCCCAGGGAACGTTCTGGCACCTGCCGACTGAGCCCTGGGAGGTAGGTAGCCCTGGCATATAG...
TGCCTTATGGGTCCAAGGTTGACTCCTGTCCCTAGGGCAGGCCTGTGGGCCCTGCCTGATCCCTACTGGGAGGATGGTACCTAGGGTTGGAGCCAAACAAGTGTCCTCCTCCAGCGCCAGCCTGGCCCTGAGTGCGAACTCGTCACTGGTCAGGGGTCTGTACAGCAGCATCCCTGAGGGCCCAGAGAGGTAGCCAGTCCTGTGGTGAGGTGACGAGGCTGAGGGTGGTGGCTCAGTCCTGGGCTTCCATGGGGCCTTCCCAGGGAACGTTCTGGCACCTGCCGACTGAGCCCTGGGAGGTAGGTAGCCCTGGCATATAG...
Task1_train_48730
This variant is located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Benign
CGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGA...
CGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGA...
Task1_train_48731
This variant is present on Chromosome 22. Is the change likely to result in a pathogenic outcome?
Benign
AGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTC...
AGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTC...
Task1_train_48732
A genomic change on Chromosome 22 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
GCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGG...
GCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGG...
Task1_train_48733
Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
ACTCTGTGTCTAGCTCAGGGATTGTAAATGCACCAATCAGCTCTCTGTAAGTGGACCAATCCACTGTCTGTAAAATGGGCCAATCAGCAGGATGTGGGTGGGGGTCAGATAAGGGAATAAAAGCAGGCTGCCTGAAGTAGCAGCGGCAACCTGGTTGCCATCATTCTTTTGCTGTTTGCAGTAAGTCTTGCTGCTGCTGCTCCCTCATTGGGTCCACACTGCCTTTATGAGTTGTAACACTGGAAGGACTGCAGTTTCACTCCTGAGGCCAGTGAGACCACAAACCCACCAGGAAGAATGAACAACTCCGTACGTGCAGC...
ACTCTGTGTCTAGCTCAGGGATTGTAAATGCACCAATCAGCTCTCTGTAAGTGGACCAATCCACTGTCTGTAAAATGGGCCAATCAGCAGGATGTGGGTGGGGGTCAGATAAGGGAATAAAAGCAGGCTGCCTGAAGTAGCAGCGGCAACCTGGTTGCCATCATTCTTTTGCTGTTTGCAGTAAGTCTTGCTGCTGCTGCTCCCTCATTGGGTCCACACTGCCTTTATGAGTTGTAACACTGGAAGGACTGCAGTTTCACTCCTGAGGCCAGTGAGACCACAAACCCACCAGGAAGAATGAACAACTCCGTACGTGCAGC...
Task1_train_48734
A genomic change on Chromosome 22 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
AAACTCTGAACACGTCTTAACATCAGAAGGAACAAACTCTGAACACACCATCTTTAAGAACTGTAACACTCACCGTGAGGGTCCACGGCTTCATTCTTGAAGTCAGTGAGACCAAGAACCCACCAATTTTGGACACAAGGTGACAGGCTGAGGGCGGTGGCTCGGTCCTGGGTTTTCCTGGGGCCTTCCCAGGGAATGTTCTGGCACCTGCCGACTGAGCCCTGGGAGGTAGCCCTGGCATATAGCTCCCTGACATGATTTGTCTTCCATTTTGGGGTGTCATATATGAAGGGAGGTGACTGTTGTGATGGTGCTGGCAG...
AAACTCTGAACACGTCTTAACATCAGAAGGAACAAACTCTGAACACACCATCTTTAAGAACTGTAACACTCACCGTGAGGGTCCACGGCTTCATTCTTGAAGTCAGTGAGACCAAGAACCCACCAATTTTGGACACAAGGTGACAGGCTGAGGGCGGTGGCTCGGTCCTGGGTTTTCCTGGGGCCTTCCCAGGGAATGTTCTGGCACCTGCCGACTGAGCCCTGGGAGGTAGCCCTGGCATATAGCTCCCTGACATGATTTGTCTTCCATTTTGGGGTGTCATATATGAAGGGAGGTGACTGTTGTGATGGTGCTGGCAG...
Task1_train_48735
This variant is present on Chromosome 22. Is the change likely to result in a pathogenic outcome?
Benign
ATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCAAGTTGGAACTACCACATTGCTTTATTGTACATTAGAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGGGGCACA...
ATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCAAGTTGGAACTACCACATTGCTTTATTGTACATTAGAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGGGGCACA...
Task1_train_48736
A mutation has occurred on Chromosome 22. What is the medical relevance of this mutation?
Benign
AGGAAGGCCTCCGGCTTCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAGGGCTTCTTCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGATGAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACTCTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCA...
AGGAAGGCCTCCGGCTTCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAGGGCTTCTTCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGATGAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACTCTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCA...
Task1_train_48737
A variant was discovered on Chromosome 22. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
GTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGG...
GTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGG...
Task1_train_48738
This variant is present on Chromosome 22. Is the change likely to result in a pathogenic outcome?
Benign
TCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTT...
TCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTT...
Task1_train_48739
A mutation found on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
CTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGCTCAAAAAAAAAAAAAAAAGAAAGAAAAGAAGAAAAGTAAAGAAAGTGAAAATGGGGACAAAACCTTTACCCTAAAACCTTATCAAGAGGATTGATAAAATATAACAGGTGTAAAGTCCTGCCATGATCCCTGGCACATAGTAGGTACACAACAAATGGCTCTTGATACCATCATCGTTGTGACTGTCACTCTTCTCCGCCCAGGCCCAATCCCAGTTGGTAGACCCTTATGTCAAGGGCTTGGCAAAGTTCTATGACCT...
CTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGCTCAAAAAAAAAAAAAAAAGAAAGAAAAGAAGAAAAGTAAAGAAAGTGAAAATGGGGACAAAACCTTTACCCTAAAACCTTATCAAGAGGATTGATAAAATATAACAGGTGTAAAGTCCTGCCATGATCCCTGGCACATAGTAGGTACACAACAAATGGCTCTTGATACCATCATCGTTGTGACTGTCACTCTTCTCCGCCCAGGCCCAATCCCAGTTGGTAGACCCTTATGTCAAGGGCTTGGCAAAGTTCTATGACCT...
Task1_train_48740
With a mutation on Chromosome 22, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
CAGGCCTCATCCGTGGCTGGGGCCAAGGCCGAGGGGTCTGAGGATGGACTGGGGGTGGCTTACGCTCCATCTTGCTCTCTCGATGCTGCCAGGCGTAGAAGTTGAGCAGCTCTTTTCGGCTGCGCTTCCGTCTCTCCCTCTCCAGCACCCGCAAGCTGGCTGCCTCAGTCCGGGGGAGCACAGGCCGCCGGCCCCGGCGGGTCACCTTCACCCAGCCCTCCTCGTCAGGGACCCCCTCCTCCTCCTTGGCCTTAGCTTCTTCCTGCAAGGAAGGTGATCCCATCCTCCGGTGGGACCTCCTGCAGCCTCCAGCAGCGCGC...
CAGGCCTCATCCGTGGCTGGGGCCAAGGCCGAGGGGTCTGAGGATGGACTGGGGGTGGCTTACGCTCCATCTTGCTCTCTCGATGCTGCCAGGCGTAGAAGTTGAGCAGCTCTTTTCGGCTGCGCTTCCGTCTCTCCCTCTCCAGCACCCGCAAGCTGGCTGCCTCAGTCCGGGGGAGCACAGGCCGCCGGCCCCGGCGGGTCACCTTCACCCAGCCCTCCTCGTCAGGGACCCCCTCCTCCTCCTTGGCCTTAGCTTCTTCCTGCAAGGAAGGTGATCCCATCCTCCGGTGGGACCTCCTGCAGCCTCCAGCAGCGCGC...
Task1_train_48741
Here’s a variant located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Benign
GAGGATGGACTGGGGGTGGCTTACGCTCCATCTTGCTCTCTCGATGCTGCCAGGCGTAGAAGTTGAGCAGCTCTTTTCGGCTGCGCTTCCGTCTCTCCCTCTCCAGCACCCGCAAGCTGGCTGCCTCAGTCCGGGGGAGCACAGGCCGCCGGCCCCGGCGGGTCACCTTCACCCAGCCCTCCTCGTCAGGGACCCCCTCCTCCTCCTTGGCCTTAGCTTCTTCCTGCAAGGAAGGTGATCCCATCCTCCGGTGGGACCTCCTGCAGCCTCCAGCAGCGCGCCCTCCACGCCCTCCTCCCAAAGTCAGAACTGCCCTGAGC...
GAGGATGGACTGGGGGTGGCTTACGCTCCATCTTGCTCTCTCGATGCTGCCAGGCGTAGAAGTTGAGCAGCTCTTTTCGGCTGCGCTTCCGTCTCTCCCTCTCCAGCACCCGCAAGCTGGCTGCCTCAGTCCGGGGGAGCACAGGCCGCCGGCCCCGGCGGGTCACCTTCACCCAGCCCTCCTCGTCAGGGACCCCCTCCTCCTCCTTGGCCTTAGCTTCTTCCTGCAAGGAAGGTGATCCCATCCTCCGGTGGGACCTCCTGCAGCCTCCAGCAGCGCGCCCTCCACGCCCTCCTCCCAAAGTCAGAACTGCCCTGAGC...
Task1_train_48742
A change on Chromosome 22 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
AAGCTCAGAGGTTCGCGATTTCTTTGGGGGCGATGAAAATGTCCTGTAATTGTGACGATGGTCTCACAACTCAATGTATTAAAAACCACAGAATTGTAGACTATCAACGGGAGGATTGTGAAGACATAAATTCTCTCTCAGAGCAAGTATGGGCTCCAGCGCCTGTTCAGATCCCAGCTCTGCTTTTCAGGGCTGACTGTGACCAAGTCCTGAACTCCCTGTGCCCCAGAAAGGCTGTGCCTTCAGCATTCACTTGTGCCTGGCTTGTGCCAGCTGAGCATGAGCTGAGATTAACTGAGCCTCAAATCCAACCCAGGGTC...
AAGCTCAGAGGTTCGCGATTTCTTTGGGGGCGATGAAAATGTCCTGTAATTGTGACGATGGTCTCACAACTCAATGTATTAAAAACCACAGAATTGTAGACTATCAACGGGAGGATTGTGAAGACATAAATTCTCTCTCAGAGCAAGTATGGGCTCCAGCGCCTGTTCAGATCCCAGCTCTGCTTTTCAGGGCTGACTGTGACCAAGTCCTGAACTCCCTGTGCCCCAGAAAGGCTGTGCCTTCAGCATTCACTTGTGCCTGGCTTGTGCCAGCTGAGCATGAGCTGAGATTAACTGAGCCTCAAATCCAACCCAGGGTC...
Task1_train_48743
This variant is located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Benign
TTGCAGTGTGCCAAGGCTGTGCCACTGCACTCCAGCCTGAGCAATACAGTGAGACTCCCTCTCAAAAAAACAAACAAAAAAAACCCTTCTCACATTTAATCCCGCTCAACCAGGAATCACCATTCCAAGTGAGGAAACTGCCTAGTTCAGAACTCCCCTGGCCAGGGAAACAGAACCCAACAGTGGCAAGTGCCAGGTGTATCCAGCTGCAAGGCCCCTGTTCCTGTGGATCCACACATAACCACCCCCCATTCCTGCAGCCCCACCTACTGCCCAACACAAAACTCTGCACACACTAAAACCAAAAACATAGAGATCAA...
TTGCAGTGTGCCAAGGCTGTGCCACTGCACTCCAGCCTGAGCAATACAGTGAGACTCCCTCTCAAAAAAACAAACAAAAAAAACCCTTCTCACATTTAATCCCGCTCAACCAGGAATCACCATTCCAAGTGAGGAAACTGCCTAGTTCAGAACTCCCCTGGCCAGGGAAACAGAACCCAACAGTGGCAAGTGCCAGGTGTATCCAGCTGCAAGGCCCCTGTTCCTGTGGATCCACACATAACCACCCCCCATTCCTGCAGCCCCACCTACTGCCCAACACAAAACTCTGCACACACTAAAACCAAAAACATAGAGATCAA...
Task1_train_48744
Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CCTCAGTGTCCACATTTGGTCCCATTTATGTTAAACAGATTCAGGCTTGTCATGGGGGGAGTTGTGCTGGTGGGACCCAACCTTCCGTGTTTGTGAGCCTTGAAAAAGGAGGAGGGAAAAACAGGCTCCCCCCATTCCCCACTGCGGGGGCTCTCCATCACCAGGGACACTGGGGCTATGAGCCAGGTCCCGAGCCCTTCCGTGCTGGGCAGGTTGTGAGACCTTGGCAAAGTCACCACCAGTCCACCCAGTGGATTCCCCGTCAGAAGAATGGAGCGGAGGAGGCTGTGAGCCTGAACACACTTCACCAATCACAAGGC...
CCTCAGTGTCCACATTTGGTCCCATTTATGTTAAACAGATTCAGGCTTGTCATGGGGGGAGTTGTGCTGGTGGGACCCAACCTTCCGTGTTTGTGAGCCTTGAAAAAGGAGGAGGGAAAAACAGGCTCCCCCCATTCCCCACTGCGGGGGCTCTCCATCACCAGGGACACTGGGGCTATGAGCCAGGTCCCGAGCCCTTCCGTGCTGGGCAGGTTGTGAGACCTTGGCAAAGTCACCACCAGTCCACCCAGTGGATTCCCCGTCAGAAGAATGGAGCGGAGGAGGCTGTGAGCCTGAACACACTTCACCAATCACAAGGC...
Task1_train_48745
A genomic change on Chromosome 22 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
ATTAAAAACAGCCAAATTAGGTTAAACTAATTTGAGGTGAAGCAAATGTGTTTCATACTCATTTTATTTTTTAAAATGCCAACAGCAGTAAATTTTGTAAAAGGATTTTAGGCTGTTTTTAAAAGCCTGAAAATTCTAATTAAAAAAAAAAGAATAAATACCCAAACGATACAAAATTTGAAGGAATTTCTGTTTAAAACGGGGTCTGTTATTTCACATTTCAGTTCAAATATGTTATATCACATTTCAGATCAACTGGGTAAACACTGAATACATTGTTTGGAATGTCCATAGGACACTGCTCTCTCTACATTGTATAG...
ATTAAAAACAGCCAAATTAGGTTAAACTAATTTGAGGTGAAGCAAATGTGTTTCATACTCATTTTATTTTTTAAAATGCCAACAGCAGTAAATTTTGTAAAAGGATTTTAGGCTGTTTTTAAAAGCCTGAAAATTCTAATTAAAAAAAAAAGAATAAATACCCAAACGATACAAAATTTGAAGGAATTTCTGTTTAAAACGGGGTCTGTTATTTCACATTTCAGTTCAAATATGTTATATCACATTTCAGATCAACTGGGTAAACACTGAATACATTGTTTGGAATGTCCATAGGACACTGCTCTCTCTACATTGTATAG...
Task1_train_48746
This variant is located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Benign
AAAAATTAGCTGGGCGTGGTGACGCATGCCTGTAATCCCAACTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTAATCCTGCCTGGGCGACAGAGTGAGACTCTGTCAAAAAAAAACCAAACAAAAACCCACAAAGACTGCGAACAGCATAAAACGGTGAACTGGGACCTGGCACACAAAGTGGGTGGCTGCCCACACTTACGAAGATGTCTTGCTGTCCCGGGACCACTTTTTGATCTGTGAGAGCTTGTTGATAAGGAAGATGCCCTTTCCCT...
AAAAATTAGCTGGGCGTGGTGACGCATGCCTGTAATCCCAACTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTAATCCTGCCTGGGCGACAGAGTGAGACTCTGTCAAAAAAAAACCAAACAAAAACCCACAAAGACTGCGAACAGCATAAAACGGTGAACTGGGACCTGGCACACAAAGTGGGTGGCTGCCCACACTTACGAAGATGTCTTGCTGTCCCGGGACCACTTTTTGATCTGTGAGAGCTTGTTGATAAGGAAGATGCCCTTTCCCT...
Task1_train_48747
Here is a genetic alteration on Chromosome 22. Based on the data, is it a benign variant or a cause of disease?
Benign
TGTAATCCCAACTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTAATCCTGCCTGGGCGACAGAGTGAGACTCTGTCAAAAAAAAACCAAACAAAAACCCACAAAGACTGCGAACAGCATAAAACGGTGAACTGGGACCTGGCACACAAAGTGGGTGGCTGCCCACACTTACGAAGATGTCTTGCTGTCCCGGGACCACTTTTTGATCTGTGAGAGCTTGTTGATAAGGAAGATGCCCTTTCCCTGGGCCTTGCCACAAGGCTTCATGATCCAGG...
TGTAATCCCAACTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTAATCCTGCCTGGGCGACAGAGTGAGACTCTGTCAAAAAAAAACCAAACAAAAACCCACAAAGACTGCGAACAGCATAAAACGGTGAACTGGGACCTGGCACACAAAGTGGGTGGCTGCCCACACTTACGAAGATGTCTTGCTGTCCCGGGACCACTTTTTGATCTGTGAGAGCTTGTTGATAAGGAAGATGCCCTTTCCCTGGGCCTTGCCACAAGGCTTCATGATCCAGG...
Task1_train_48748
A mutation found on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
AACTAGAATCTCTACAGCAACCCTATGAAAAATGAAGGCCCAGACAGGTCAAGCAACTTCCCTGAGATCACACAGCAGTCAGTGTCAGGTCACGTATGAACCATCACTGTGCCACTCGGAGGTGGGCAACGCTCCTGGCCTTGTTCCTAATGGTGCTCTGAACTGCGGCCTCTGTTTCAGGTACGGCTCCTACCTGGTCTGGAAAGAGCTGGGAGGCTTCACAGAGAAGGCTGTGGTTCCCCTGGGCCTCTACACTGGGCAGCTGGCCCTGAACTGGGCATGGCCCCCCATCTTCTTTGGTGCCCGACAAATGGGCTGGG...
AACTAGAATCTCTACAGCAACCCTATGAAAAATGAAGGCCCAGACAGGTCAAGCAACTTCCCTGAGATCACACAGCAGTCAGTGTCAGGTCACGTATGAACCATCACTGTGCCACTCGGAGGTGGGCAACGCTCCTGGCCTTGTTCCTAATGGTGCTCTGAACTGCGGCCTCTGTTTCAGGTACGGCTCCTACCTGGTCTGGAAAGAGCTGGGAGGCTTCACAGAGAAGGCTGTGGTTCCCCTGGGCCTCTACACTGGGCAGCTGGCCCTGAACTGGGCATGGCCCCCCATCTTCTTTGGTGCCCGACAAATGGGCTGGG...
Task1_train_48749
A variant on Chromosome 22 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
GGTCAAGCAACTTCCCTGAGATCACACAGCAGTCAGTGTCAGGTCACGTATGAACCATCACTGTGCCACTCGGAGGTGGGCAACGCTCCTGGCCTTGTTCCTAATGGTGCTCTGAACTGCGGCCTCTGTTTCAGGTACGGCTCCTACCTGGTCTGGAAAGAGCTGGGAGGCTTCACAGAGAAGGCTGTGGTTCCCCTGGGCCTCTACACTGGGCAGCTGGCCCTGAACTGGGCATGGCCCCCCATCTTCTTTGGTGCCCGACAAATGGGCTGGGTAAGTGTGGCCACAGCATGTGTCCCTGATCCCTGGATCCGACCCTT...
GGTCAAGCAACTTCCCTGAGATCACACAGCAGTCAGTGTCAGGTCACGTATGAACCATCACTGTGCCACTCGGAGGTGGGCAACGCTCCTGGCCTTGTTCCTAATGGTGCTCTGAACTGCGGCCTCTGTTTCAGGTACGGCTCCTACCTGGTCTGGAAAGAGCTGGGAGGCTTCACAGAGAAGGCTGTGGTTCCCCTGGGCCTCTACACTGGGCAGCTGGCCCTGAACTGGGCATGGCCCCCCATCTTCTTTGGTGCCCGACAAATGGGCTGGGTAAGTGTGGCCACAGCATGTGTCCCTGATCCCTGGATCCGACCCTT...
Task1_train_48750
A genetic alteration is present on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
ATGTTCACGCGCCATGATTTATCATTAGTGAAGACCTCAGATGACCAATCGCCGCCACAGTTAGCAACAAGCCCGAACCTCAAAACCTCAAAACACGCCACTCAGCCAACAAAGCAAGCTGCAGAAGGATCCGTTGAATAAGATGATATTTACATAAAAACCTAAGTAGGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGCGGAGCGCTTGAGTCCAGGAGTTTCAGACAAGCCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGG...
ATGTTCACGCGCCATGATTTATCATTAGTGAAGACCTCAGATGACCAATCGCCGCCACAGTTAGCAACAAGCCCGAACCTCAAAACCTCAAAACACGCCACTCAGCCAACAAAGCAAGCTGCAGAAGGATCCGTTGAATAAGATGATATTTACATAAAAACCTAAGTAGGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGCGGAGCGCTTGAGTCCAGGAGTTTCAGACAAGCCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGG...
Task1_train_48751
With a mutation on Chromosome 22, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
GTCGGGGGAGCAAGAGGCCCAGGGCTGTGTTGGGACCAGGGCCCAAGCTTCCTTAGATTTGGTCTACTGGGTGCCATAGTTATGCCTAGTTTTGGACTCCAGTGGGCCTGGGTCAGGTGCTGGCGCTGCTGCTCACTCCCTGTGTGATCCTGAGCAAGCACCTCCTCCTCTTCAAGCTTCTCAAACAGGGCAGCAGGGGTCTCTACCGCCTGTCACCTGGCTGTCACAAGCAGCAAATGAGACCAGATATGTGGTACACCTACTGTCCACCAAGCACTTGTAATAAACACACCAGCAGTCACTAGCGTGAAGTCCTCAAC...
GTCGGGGGAGCAAGAGGCCCAGGGCTGTGTTGGGACCAGGGCCCAAGCTTCCTTAGATTTGGTCTACTGGGTGCCATAGTTATGCCTAGTTTTGGACTCCAGTGGGCCTGGGTCAGGTGCTGGCGCTGCTGCTCACTCCCTGTGTGATCCTGAGCAAGCACCTCCTCCTCTTCAAGCTTCTCAAACAGGGCAGCAGGGGTCTCTACCGCCTGTCACCTGGCTGTCACAAGCAGCAAATGAGACCAGATATGTGGTACACCTACTGTCCACCAAGCACTTGTAATAAACACACCAGCAGTCACTAGCGTGAAGTCCTCAAC...
Task1_train_48752
A variant was discovered on Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
CTGCTCAAGGCCTCCTGTCCCCAGAGCCCTCCCCAGTGCTCCGAGGAGCTGCTGTTCCCCCTGGAGCTCAGAAAGCTCTCAGCTATAAGGTGTCCCTGTCCTAATGCGGGGCACAGTGGGTCACCCACGCCCACGCCTGACAGCTCCAGGCTCCTCCTCTGAGCTGGGAGGTTCGCCACATGGAGGAGATGAGAGGGGTTCGGGGAAGCCTCTCGGAGCAGTGCAGCCCTGCCTCTCGGGGTGGGCGGGCGTGGTGGGGAGGGCATGCTCACCTTTAGCCTCGCAGTCCTGGAAGGAGGTGGTGCCTTCGTGTTTGGTGA...
CTGCTCAAGGCCTCCTGTCCCCAGAGCCCTCCCCAGTGCTCCGAGGAGCTGCTGTTCCCCCTGGAGCTCAGAAAGCTCTCAGCTATAAGGTGTCCCTGTCCTAATGCGGGGCACAGTGGGTCACCCACGCCCACGCCTGACAGCTCCAGGCTCCTCCTCTGAGCTGGGAGGTTCGCCACATGGAGGAGATGAGAGGGGTTCGGGGAAGCCTCTCGGAGCAGTGCAGCCCTGCCTCTCGGGGTGGGCGGGCGTGGTGGGGAGGGCATGCTCACCTTTAGCCTCGCAGTCCTGGAAGGAGGTGGTGCCTTCGTGTTTGGTGA...
Task1_train_48753
A variant on Chromosome 22 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
AATGCCTCTTCCCCTCAGCCCTCCCCGGCCTCCCCCAGCCTCCTGCCATACTGAACTTCTCTATCCCACACCAAGCAGCCTGTGATACTCAATTATCTCAGTGATTTTAAAAATGAAAACCTGTCTTCTGCACTCAGTAGAGGACCCCTACAGGCAGGAACCGTCTCTTTTATTCATCCTGTCTCACTGGAACCCGCATACAATAGGAGCCCAGAAAACACACCTGTTCCGTGAGCGAGCGAGTGAGATGATCTCTGACCTTGGCCAGTGGGAGCCAGGGCCCTAAGGGCTCTGAGTGCAGCCACAGGCCCAGGGCTGGG...
AATGCCTCTTCCCCTCAGCCCTCCCCGGCCTCCCCCAGCCTCCTGCCATACTGAACTTCTCTATCCCACACCAAGCAGCCTGTGATACTCAATTATCTCAGTGATTTTAAAAATGAAAACCTGTCTTCTGCACTCAGTAGAGGACCCCTACAGGCAGGAACCGTCTCTTTTATTCATCCTGTCTCACTGGAACCCGCATACAATAGGAGCCCAGAAAACACACCTGTTCCGTGAGCGAGCGAGTGAGATGATCTCTGACCTTGGCCAGTGGGAGCCAGGGCCCTAAGGGCTCTGAGTGCAGCCACAGGCCCAGGGCTGGG...
Task1_train_48754
A mutation located on Chromosome 22 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
TCCAGAGTCTCACCAGCACCCCATCCCAAGCCACCATCGCCTCTGCTAGACCTCCTCACCGACCCACACCCCCAGCATCCAGAGTGTTTTTTGTTTTTTTGTTTTTTTTTTTGTTTTGAAATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGATGGTATCGA...
TCCAGAGTCTCACCAGCACCCCATCCCAAGCCACCATCGCCTCTGCTAGACCTCCTCACCGACCCACACCCCCAGCATCCAGAGTGTTTTTTGTTTTTTTGTTTTTTTTTTTGTTTTGAAATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGATGGTATCGA...
Task1_train_48755
With a mutation on Chromosome 22, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
CTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCATGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGAGTACAGGTGTGAGCCACTGCACCCGGCTCCAGAGTGGTCTTTAAAGAGTCCCTCAGATTATGTCACTTTGCTGCTTAAAAATAAGCAAAGGCTCCATACCCCTTGAGTGAATGCCA...
CTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCATGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGAGTACAGGTGTGAGCCACTGCACCCGGCTCCAGAGTGGTCTTTAAAGAGTCCCTCAGATTATGTCACTTTGCTGCTTAAAAATAAGCAAAGGCTCCATACCCCTTGAGTGAATGCCA...
Task1_train_48756
Given a variant located on Chromosome 22, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
CTTGTTCTCTTCGATGCCTGCCCTCTGCAGAAAGCATCTTCCCTTCTTGACGCTGACACACAGAAGCTCACCTGGGAGCACCACCTCACCAGGAGGCTGGTTCCAAGCACAATATCCAAGGACACCAGCACAGTCCACAGCATCAGTACTCCACACACACAAGCATCATTCCATACATGTAGGCATCATACCCTACACGCGGTCATCATTCCCTACGTGCAGGCATTATTCTGTACATGCAGGCATCATTCCATACACACAGGCATCATTCCCTACACACAGGCATTATTCCCTACAAGCAGGCATCATACCCTACACGC...
CTTGTTCTCTTCGATGCCTGCCCTCTGCAGAAAGCATCTTCCCTTCTTGACGCTGACACACAGAAGCTCACCTGGGAGCACCACCTCACCAGGAGGCTGGTTCCAAGCACAATATCCAAGGACACCAGCACAGTCCACAGCATCAGTACTCCACACACACAAGCATCATTCCATACATGTAGGCATCATACCCTACACGCGGTCATCATTCCCTACGTGCAGGCATTATTCTGTACATGCAGGCATCATTCCATACACACAGGCATCATTCCCTACACACAGGCATTATTCCCTACAAGCAGGCATCATACCCTACACGC...
Task1_train_48757
Consider a variant on Chromosome 22. Determine its clinical classification and disease relevance.
Benign
CTGGGAAGATTCTGTTGGACTTTCTATTAACTAAATCATGTCAGCTACAAATAACAATATCAAGACTAGGTAAAAAGGCAGGATGCAAATTCCTTCTGGATGACTGAGAGGAAGTAAGCCACACCTGATTTAAATGTAAGTGATCACAGCAGTTGGGTCCACTTGCAGAGTTGGTGGCAGCATCTGGAGGCAGCACATATAGCAAATGGGATGCATGCCTTGGCGTGGATCTAAAGCAGTCTTTTAAACATTCTGCATCCCTCTCTATAGCAGGAGAGAGATTTGTTTCCCATGACTGCCCTGAGCAGCCAGGCAAAACG...
CTGGGAAGATTCTGTTGGACTTTCTATTAACTAAATCATGTCAGCTACAAATAACAATATCAAGACTAGGTAAAAAGGCAGGATGCAAATTCCTTCTGGATGACTGAGAGGAAGTAAGCCACACCTGATTTAAATGTAAGTGATCACAGCAGTTGGGTCCACTTGCAGAGTTGGTGGCAGCATCTGGAGGCAGCACATATAGCAAATGGGATGCATGCCTTGGCGTGGATCTAAAGCAGTCTTTTAAACATTCTGCATCCCTCTCTATAGCAGGAGAGAGATTTGTTTCCCATGACTGCCCTGAGCAGCCAGGCAAAACG...
Task1_train_48758
Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
ATTGTGTGTGTTGTGTACAAACACTGAAACTCGCTCAGTATATGAAGAGACGTCATTTTTGTTCACTGCATTTGTAAAAGATAAAATTTCTCAAGATCTTGGCTCTTTGGGCAACTGTACAGGCAGTGGTGACCCATCGCGGATTTTGATTGATCTTGCAAAAGACTTAGGTTATCTGTCACGGTATTCTGAATGACTGCAGTTATGAAACTGGGTGCATGCGATTACCCACCATAGGGATATGCATTTACATGTTTCACTTTTTGACCTATTTCTTTAGGAATATGGTTCATCTGCTCATATCTGTCACACCTATGTGA...
ATTGTGTGTGTTGTGTACAAACACTGAAACTCGCTCAGTATATGAAGAGACGTCATTTTTGTTCACTGCATTTGTAAAAGATAAAATTTCTCAAGATCTTGGCTCTTTGGGCAACTGTACAGGCAGTGGTGACCCATCGCGGATTTTGATTGATCTTGCAAAAGACTTAGGTTATCTGTCACGGTATTCTGAATGACTGCAGTTATGAAACTGGGTGCATGCGATTACCCACCATAGGGATATGCATTTACATGTTTCACTTTTTGACCTATTTCTTTAGGAATATGGTTCATCTGCTCATATCTGTCACACCTATGTGA...
Task1_train_48759
A variant on Chromosome 22 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
ACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGACGGTCTCAATCTCTTGACCTCATGATCCGCCTGCCTCAGCATCCCAAAGTGCTGGGATTACAAGCGTGATCCACCGCGCCCGGCCAGTCCCCATTTCTTTAAGAGAAAACTGAGTCTTGACAAGGCCCAGGAGCTACTCTGAGGCCCTAGAACCAGGGAGGAGAGAGCACAGACTTCACCTCCAGCAGCCTGACTTCAAAGCCTGGGCCATTTCTACCACACCAAGAGCCGAATGTTGATATTAAATAGAAAGCTG...
ACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGACGGTCTCAATCTCTTGACCTCATGATCCGCCTGCCTCAGCATCCCAAAGTGCTGGGATTACAAGCGTGATCCACCGCGCCCGGCCAGTCCCCATTTCTTTAAGAGAAAACTGAGTCTTGACAAGGCCCAGGAGCTACTCTGAGGCCCTAGAACCAGGGAGGAGAGAGCACAGACTTCACCTCCAGCAGCCTGACTTCAAAGCCTGGGCCATTTCTACCACACCAAGAGCCGAATGTTGATATTAAATAGAAAGCTG...
Task1_train_48760
A variant found on Chromosome 22 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
GCAAGAGAAGCCCTGGCATGGCCCTGCCCACCTGAAGTCTGTGGGCCAGCAACCTGAGCCCCCCCATTTCACACAGTAAGAGACTGCACCCCCTCCACCTTCTGCAGATGAAGAAGCAACACTGAGCAAGCCCCCACCACAGGCCAGCAGGTAGCTCTGCGCTCATCGTTGTCCGTGAGACAAGGGGTGTATGCCCTCTCGTAGATGAGGAGACTGAGGTTCAGAGTGGAGAAGTGACTTGCCTAAGGACCATCAACAGGAAGTGGCAGGGCCAGGATGGACTTGAGGACTCTCAGGCTCCTGAGTTGTTTCTACCTCTT...
GCAAGAGAAGCCCTGGCATGGCCCTGCCCACCTGAAGTCTGTGGGCCAGCAACCTGAGCCCCCCCATTTCACACAGTAAGAGACTGCACCCCCTCCACCTTCTGCAGATGAAGAAGCAACACTGAGCAAGCCCCCACCACAGGCCAGCAGGTAGCTCTGCGCTCATCGTTGTCCGTGAGACAAGGGGTGTATGCCCTCTCGTAGATGAGGAGACTGAGGTTCAGAGTGGAGAAGTGACTTGCCTAAGGACCATCAACAGGAAGTGGCAGGGCCAGGATGGACTTGAGGACTCTCAGGCTCCTGAGTTGTTTCTACCTCTT...
Task1_train_48761
A genetic alteration is present on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GTCTAGTGGGGAGGGGTACCTTGAAAGAGGAAAGTTGTTTCCTCCTCCTCCTCCTCCTCCAGTGTTTGGGACCCTTCCTGGGGGCTGGAGTGCATCCCTGGACACCCCCCAATCCCATCCTCTTCTCTAGTTTCCACTGACCTAGGCCCACCCTCCCCTCTCCGGCTCAGTACTCCTGGAAATGAGATTCCGTACATTTGAATCTTGTCCTAATGAAATATTTGTCCATGTGGGTACCTGTGTGTGTGTGGTGGGGGTGCAGACGGAGGGTTTGTTTCTCACTAGCTGGAACTACTGGGGTGTGGTATGCTTCCTGGGAA...
GTCTAGTGGGGAGGGGTACCTTGAAAGAGGAAAGTTGTTTCCTCCTCCTCCTCCTCCTCCAGTGTTTGGGACCCTTCCTGGGGGCTGGAGTGCATCCCTGGACACCCCCCAATCCCATCCTCTTCTCTAGTTTCCACTGACCTAGGCCCACCCTCCCCTCTCCGGCTCAGTACTCCTGGAAATGAGATTCCGTACATTTGAATCTTGTCCTAATGAAATATTTGTCCATGTGGGTACCTGTGTGTGTGTGGTGGGGGTGCAGACGGAGGGTTTGTTTCTCACTAGCTGGAACTACTGGGGTGTGGTATGCTTCCTGGGAA...
Task1_train_48762
A genetic alteration is present on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GGTCACCTTGGGCTGGCGTGGTTTCCTGTGGTTCCCTGGGGTCACCTTGGGCTAGTGTGGTGCCTTGTTCTCTGAAGTCACCTTGGGCTAGTGTGGTTTCCTGAGGTCACCTTGGGCTGGTGTGGTGCTTCGTTCCCTGAAGTCACCCTGGGCTGGTGTAGTTTCCCCCCGTGGTGTCTTGTTGCTTTGTCATCCCTAGGGTCCCTGAGTCCCTCTGATGGCTGAGCACCGTGTCCTCATTCCAGTATTGGAGGAGCACAGGAGATTGAGAGGGCTTACCCCTCCCTTTAAGCACCTGTCCTAGGTGTTGTACACGGCAC...
GGTCACCTTGGGCTGGCGTGGTTTCCTGTGGTTCCCTGGGGTCACCTTGGGCTAGTGTGGTGCCTTGTTCTCTGAAGTCACCTTGGGCTAGTGTGGTTTCCTGAGGTCACCTTGGGCTGGTGTGGTGCTTCGTTCCCTGAAGTCACCCTGGGCTGGTGTAGTTTCCCCCCGTGGTGTCTTGTTGCTTTGTCATCCCTAGGGTCCCTGAGTCCCTCTGATGGCTGAGCACCGTGTCCTCATTCCAGTATTGGAGGAGCACAGGAGATTGAGAGGGCTTACCCCTCCCTTTAAGCACCTGTCCTAGGTGTTGTACACGGCAC...
Task1_train_48763
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
ACATTGTAAATAATAACTTTTAAGATAACTTGTTGTTTATTTTATTTTCTGTGGTATTACTCTCTCAAAGTAAAACTCATAGTATTGCTGGGTGCTGCTTTTAGGAAGCTTACAGCAATTTATACCCCTACCAGCAGGGTATGAACTTGTACTTGTTGCTTCGAAATACTAATCATTGTCCTCTAGGGCAAAAAAACTTTTTTTTCAACCCTGCATTAGTTAAAATATACTGGTACAGCTTTTTTGGATGGTGGTTTGGAAGTAGAACAATTTTAGGTTTATAAACTCTGGATCCTAACAGTTTCACAAAACTCCATGAA...
ACATTGTAAATAATAACTTTTAAGATAACTTGTTGTTTATTTTATTTTCTGTGGTATTACTCTCTCAAAGTAAAACTCATAGTATTGCTGGGTGCTGCTTTTAGGAAGCTTACAGCAATTTATACCCCTACCAGCAGGGTATGAACTTGTACTTGTTGCTTCGAAATACTAATCATTGTCCTCTAGGGCAAAAAAACTTTTTTTTCAACCCTGCATTAGTTAAAATATACTGGTACAGCTTTTTTGGATGGTGGTTTGGAAGTAGAACAATTTTAGGTTTATAAACTCTGGATCCTAACAGTTTCACAAAACTCCATGAA...
Task1_train_48764
A mutation has occurred on Chromosome 22. What is the medical relevance of this mutation?
Benign
AGGGCTTCGCACATGCATTACTCTCCGATTTTTTCTCTCTCTCAGCTGGGGCTGAGTCCCCGTCACTTTCAGTCCTCCCCGTAACTTGTTGTTTATGTCTTTGCCAAATGACCTGAAGATTTGGGCCTCAGTCTGGGGACCCATGTTATCCCTGGGCCACACTCTCAGGTGCCCCGGGACTGTCTCGCCCTCATTACCTGCAGAAGCTGCAGGGATTTTACAGAGAATATATAAAAAGAGACAGTTTTGGTTGGGCGTGGTGGCTTGCACCTGTAATCACAGCAGTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGCC...
AGGGCTTCGCACATGCATTACTCTCCGATTTTTTCTCTCTCTCAGCTGGGGCTGAGTCCCCGTCACTTTCAGTCCTCCCCGTAACTTGTTGTTTATGTCTTTGCCAAATGACCTGAAGATTTGGGCCTCAGTCTGGGGACCCATGTTATCCCTGGGCCACACTCTCAGGTGCCCCGGGACTGTCTCGCCCTCATTACCTGCAGAAGCTGCAGGGATTTTACAGAGAATATATAAAAAGAGACAGTTTTGGTTGGGCGTGGTGGCTTGCACCTGTAATCACAGCAGTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGCC...
Task1_train_48765
This genomic variant is located on Chromosome 22. Can you determine its pathogenicity and name any linked disease?
Benign
TAAACTTGGCTTTTTCTCTGAGCAAGCAAGGATCACACCTGTGTCCTTATTCTTTCTCACGGCCTCACATCCACCAAAGCTTGTGGGCACGGATCATCCTTTGCACCGGCTCCAGTTTCCAGAGAGGCCCTGGCAGGCTTTGCATTGGCTCATCCAGGAAATAACCGGGAGCTGGTGCTGGGGGCCTCAAGGACCAGCTGGTTTTAAGGTGGAAGTTTTGCCTAAGGTGCTTAGAGTTCTGAAGGGAAGTGCTGGTACCCAGAGTCACGCGTGCAGCAGCTGTGAGAGGGAGCGGGCTGCATGCGGGCTCTTGATGGGAA...
TAAACTTGGCTTTTTCTCTGAGCAAGCAAGGATCACACCTGTGTCCTTATTCTTTCTCACGGCCTCACATCCACCAAAGCTTGTGGGCACGGATCATCCTTTGCACCGGCTCCAGTTTCCAGAGAGGCCCTGGCAGGCTTTGCATTGGCTCATCCAGGAAATAACCGGGAGCTGGTGCTGGGGGCCTCAAGGACCAGCTGGTTTTAAGGTGGAAGTTTTGCCTAAGGTGCTTAGAGTTCTGAAGGGAAGTGCTGGTACCCAGAGTCACGCGTGCAGCAGCTGTGAGAGGGAGCGGGCTGCATGCGGGCTCTTGATGGGAA...
Task1_train_48766
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TCTCATCTGGCCACAGGGCCTTTTTCCAGGGCACACCATGGTCTCCCAGATCCCGACGCTGCTGTGAGCAGCAGAGTGACTCAGGCCACATGCTCTGAGAGGGGCTGGGAGGCCACCGTGGGCCCTGCCATGGGGACAGAGAGCCTGTGGGAATGGGGAGGCGGGAGGCAGAGGACAGGCTGTCTGGTGGGTGGGACATATGGTTGAGAGCCTGGAGCCACCAAGCTCGGGTGCATGACCCCCTACCCCCTGCCCCACTCTCCTGCAGGGGGTACATGAGTCCAGGGGCGTGACTGAGGACTACCTGCGCCTGGAGACGC...
TCTCATCTGGCCACAGGGCCTTTTTCCAGGGCACACCATGGTCTCCCAGATCCCGACGCTGCTGTGAGCAGCAGAGTGACTCAGGCCACATGCTCTGAGAGGGGCTGGGAGGCCACCGTGGGCCCTGCCATGGGGACAGAGAGCCTGTGGGAATGGGGAGGCGGGAGGCAGAGGACAGGCTGTCTGGTGGGTGGGACATATGGTTGAGAGCCTGGAGCCACCAAGCTCGGGTGCATGACCCCCTACCCCCTGCCCCACTCTCCTGCAGGGGGTACATGAGTCCAGGGGCGTGACTGAGGACTACCTGCGCCTGGAGACGC...
Task1_train_48767
Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
CAGTGAAACTGGCCACACCTCTCCCCAGGGAGGCCGTGCACACTCAGGCGGCGAGGACTTCTCATCCCAGCTCAGGTGCAGATGAACTGAGGCCACGAGAGCTCAGACTTGCTCCTGGCCTGAGGCCATCCAGTCAGGAGGCAGAGGAGCTGGGAACCCCTCAGGTCAGCCTGGCTCCGTTTCTCCCTCCCCACACCACAGTGCCTGAGACACACAACCCTGGCTTGGGGGCACAGGTGGGAATAACATTCTATTTTTTTTCACTGCCATGAGGCCCCTCACGTGGTGGATGGGGAAGGGGAAGGGGGTCTTCAGATGCC...
CAGTGAAACTGGCCACACCTCTCCCCAGGGAGGCCGTGCACACTCAGGCGGCGAGGACTTCTCATCCCAGCTCAGGTGCAGATGAACTGAGGCCACGAGAGCTCAGACTTGCTCCTGGCCTGAGGCCATCCAGTCAGGAGGCAGAGGAGCTGGGAACCCCTCAGGTCAGCCTGGCTCCGTTTCTCCCTCCCCACACCACAGTGCCTGAGACACACAACCCTGGCTTGGGGGCACAGGTGGGAATAACATTCTATTTTTTTTCACTGCCATGAGGCCCCTCACGTGGTGGATGGGGAAGGGGAAGGGGGTCTTCAGATGCC...
Task1_train_48768
A genetic alteration is present on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GTCCAGCTGGAAGAGAGCACGGGTCAGCGTGCAGGGAGGGGTCAGCCATCCCACAGGGCCAATCCGCAGCCCCACCCATCCCACCCCATACCTTCTGCAGGATGAGATTCAGGCAGACGCTCTCCTCCCAGTCGATGTCAGGGTCTCCCAGGCCTGGCAGCTTCTTGGAGTCCCGCCGGTACACCTCCACCTCCACCTCAGGCTCAGCTGCCTGCGAGGCCCAGAGCAGAAGTGAGTGCCCAGGGCCCACTGTGGTGCTCTTCTTCTTCCCTGACTACTATGCAGGCATTACGATGGACAAGGACTCCAATTCTTTTTTC...
GTCCAGCTGGAAGAGAGCACGGGTCAGCGTGCAGGGAGGGGTCAGCCATCCCACAGGGCCAATCCGCAGCCCCACCCATCCCACCCCATACCTTCTGCAGGATGAGATTCAGGCAGACGCTCTCCTCCCAGTCGATGTCAGGGTCTCCCAGGCCTGGCAGCTTCTTGGAGTCCCGCCGGTACACCTCCACCTCCACCTCAGGCTCAGCTGCCTGCGAGGCCCAGAGCAGAAGTGAGTGCCCAGGGCCCACTGTGGTGCTCTTCTTCTTCCCTGACTACTATGCAGGCATTACGATGGACAAGGACTCCAATTCTTTTTTC...
Task1_train_48769
A mutation on Chromosome 22 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
AAGCAGCATGGGCAAGTTCATGGAGGGGAGACAATATTGGGCTGTCCTGGGAACTGCCAGTCCATGGGACCAGCTGGAGCCTGGGGTGAGGGGAGCCTGTGGGGGAAGGGGTGAGGCTGGAGACCGAACAAAGCAAAGCCCAGAACTTCAGGACCTCACTGCCTTTCCAGAGAGGCTGGACTTCGTCAGGGGGCGCTGGGGGACCATGGGAGGGCCATAGCCAGAGAATGAGGCAGTCAGACTTGCATGTGGGGGGAGGGCCCAGGTGAGGAAGGTGGGACGGAGGAGGGCTGGGCCGATGGCATGGAGAGATGCTTAGG...
AAGCAGCATGGGCAAGTTCATGGAGGGGAGACAATATTGGGCTGTCCTGGGAACTGCCAGTCCATGGGACCAGCTGGAGCCTGGGGTGAGGGGAGCCTGTGGGGGAAGGGGTGAGGCTGGAGACCGAACAAAGCAAAGCCCAGAACTTCAGGACCTCACTGCCTTTCCAGAGAGGCTGGACTTCGTCAGGGGGCGCTGGGGGACCATGGGAGGGCCATAGCCAGAGAATGAGGCAGTCAGACTTGCATGTGGGGGGAGGGCCCAGGTGAGGAAGGTGGGACGGAGGAGGGCTGGGCCGATGGCATGGAGAGATGCTTAGG...
Task1_train_48770
Given this variant on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
CATAGAGCCAGGTCTCAGGTCGGGGAGAAGGTGAGCATTCCCAGGAGATGATGGAGATGTGGGGGTTGGCTGATGGCAGACCCCCTGGGAACAGTGGGAGGGTTTGGGTGGTGGGAGAGTCAGAAGAGCTGTGGCGATGAGTGGGAACCTATGAGTCTTGGTTTTCTTGTGCCGGCCAAGCAACACGAACAGGCACAGAGGGCGAGGGGAGGTATTTTGATACCCAGGTGCCGAGGCAGAGGGTGACAATGAGGCTGGGAGCCGGGCAGAGGGGACCCTGTGTCCTCCTGAACCCGCCCCCACCCCGCCTCTCTGTCCCC...
CATAGAGCCAGGTCTCAGGTCGGGGAGAAGGTGAGCATTCCCAGGAGATGATGGAGATGTGGGGGTTGGCTGATGGCAGACCCCCTGGGAACAGTGGGAGGGTTTGGGTGGTGGGAGAGTCAGAAGAGCTGTGGCGATGAGTGGGAACCTATGAGTCTTGGTTTTCTTGTGCCGGCCAAGCAACACGAACAGGCACAGAGGGCGAGGGGAGGTATTTTGATACCCAGGTGCCGAGGCAGAGGGTGACAATGAGGCTGGGAGCCGGGCAGAGGGGACCCTGTGTCCTCCTGAACCCGCCCCCACCCCGCCTCTCTGTCCCC...
Task1_train_48771
This variant is found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
AGTTTCTCTTAGGTTTTGAAGGTATAAGTGTAAAGTGAAGCATCTCTCGATGATTCTTTCCAAGATAGGTTTAAAAACTATGAATCCATTTTCAGTATTTTCTTCTCTCTGTTTGAAACAGTTTGAGGATGTGTTTCTTTTTCTTGGCTTGATGTTTGGTAGGTCCTTGAATGGGCAAGAGGGCACATGAAGTACGGCGTCCTCCACATTCACGGCCTCTACACGGACCCCTGCGGGGTGGTGCTGGACCCATCGGGGTATAAAGACGTCACTCAAGACGCAGAAGTCATGGTACGGCCCGTCCTAATTAGCATCGGTGC...
AGTTTCTCTTAGGTTTTGAAGGTATAAGTGTAAAGTGAAGCATCTCTCGATGATTCTTTCCAAGATAGGTTTAAAAACTATGAATCCATTTTCAGTATTTTCTTCTCTCTGTTTGAAACAGTTTGAGGATGTGTTTCTTTTTCTTGGCTTGATGTTTGGTAGGTCCTTGAATGGGCAAGAGGGCACATGAAGTACGGCGTCCTCCACATTCACGGCCTCTACACGGACCCCTGCGGGGTGGTGCTGGACCCATCGGGGTATAAAGACGTCACTCAAGACGCAGAAGTCATGGTACGGCCCGTCCTAATTAGCATCGGTGC...
Task1_train_48772
Located on Chromosome 22, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
ACCCCTAAAATTCACCAGTCTTCGTTATTATTTTTTAAAACTGCCTCTGTAATTTAAAATTAGAAGATTGGAGTAATTGGTGTCCTAGTGACAGTCTGTAACTAGAACTTTAAAGTAACTTCAGGCTGGGCACCGTGGCTCACGCCTGTCATCCCAGTTTTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAACCTGGGCAACATAGGGAGACCTGGTCTCTACAAAAATGTTTTTAAAAATTAGCTGGGTTTGGAGCGGGCGCGATAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT...
ACCCCTAAAATTCACCAGTCTTCGTTATTATTTTTTAAAACTGCCTCTGTAATTTAAAATTAGAAGATTGGAGTAATTGGTGTCCTAGTGACAGTCTGTAACTAGAACTTTAAAGTAACTTCAGGCTGGGCACCGTGGCTCACGCCTGTCATCCCAGTTTTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAACCTGGGCAACATAGGGAGACCTGGTCTCTACAAAAATGTTTTTAAAAATTAGCTGGGTTTGGAGCGGGCGCGATAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT...
Task1_train_48773
This alteration occurs on Chromosome 22. Is it associated with a disease or is it a benign variant?
Benign
TATGCTTTCTCTCTTTAAAAAATTATGGAACAAAAAAGTTAGATCTCTTTGTAAGAATATAAATTTTTACTAGCTGTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCCATCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG...
TATGCTTTCTCTCTTTAAAAAATTATGGAACAAAAAAGTTAGATCTCTTTGTAAGAATATAAATTTTTACTAGCTGTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCCATCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG...
Task1_train_48774
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
CAAAAAAGTTAGATCTCTTTGTAAGAATATAAATTTTTACTAGCTGTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCCATCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTG...
CAAAAAAGTTAGATCTCTTTGTAAGAATATAAATTTTTACTAGCTGTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCCATCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTG...
Task1_train_48775
This variant is present on Chromosome 22. Is the change likely to result in a pathogenic outcome?
Benign
GGGTTCAAGCAACTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAGGCATGCACCACGATGCCCAGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCATCATATTGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCATAGTGTTGGGATTACAGGCATGAGCCACCACGCCCTGCCCAGAATCACTTTTTGATTCCTTCTTGGATATTGCCTTCTCCTGGTTTCCTTCTACCCCTCTGCCTGTTTCTACGTCTTCTTTCTGAATCCCCCAGGTCCCCTGGTTCCCCCTT...
GGGTTCAAGCAACTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAGGCATGCACCACGATGCCCAGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCATCATATTGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCATAGTGTTGGGATTACAGGCATGAGCCACCACGCCCTGCCCAGAATCACTTTTTGATTCCTTCTTGGATATTGCCTTCTCCTGGTTTCCTTCTACCCCTCTGCCTGTTTCTACGTCTTCTTTCTGAATCCCCCAGGTCCCCTGGTTCCCCCTT...
Task1_train_48776
This mutation occurs on Chromosome 22. Does this change lead to a known medical condition, or is it benign?
Benign
AGCCCCAGTTGCACTCACGTCCGAGAACCGGGCTGGCTGGGGGTCCTCTTTGATGGAGCTTTCCTTTTCTCCAAGTCTTGCCGAATTTCCTGAGGAAAAGCATTGATGTTCTCCCGGACACAAGGGAGGCAGAATCTCTTGGAGTAGAATAAACTGCATTCCTTAAAGAAGTGGACAAGGATGGAGGCTTGAGTATCCTGGGAACATGGTGCAGCTCCTCCCAGGGGCCAGCCCTTCCCACACTTGGGGGGCTGGGCTGGGGCCCCAGCATGCACAGTGTGGGCAGGTGGCCAGAGCTAGACCAGCAAGAGGGAGAGCCA...
AGCCCCAGTTGCACTCACGTCCGAGAACCGGGCTGGCTGGGGGTCCTCTTTGATGGAGCTTTCCTTTTCTCCAAGTCTTGCCGAATTTCCTGAGGAAAAGCATTGATGTTCTCCCGGACACAAGGGAGGCAGAATCTCTTGGAGTAGAATAAACTGCATTCCTTAAAGAAGTGGACAAGGATGGAGGCTTGAGTATCCTGGGAACATGGTGCAGCTCCTCCCAGGGGCCAGCCCTTCCCACACTTGGGGGGCTGGGCTGGGGCCCCAGCATGCACAGTGTGGGCAGGTGGCCAGAGCTAGACCAGCAAGAGGGAGAGCCA...
Task1_train_48777
A genomic variant on Chromosome 22 is under review. What is the biological outcome — benign or pathogenic?
Benign
GTGGTACCTGCGTGCGCCCCCCACCCCCGCCACCCCGCTGCTCACGAAGAGCAGCCCAAGGCCAAGGTGTTGCATTCAAGACCTCCACCTCCCCACCTGGCCCACCCACCTTTGCAGTCTTCCTTTCCCAGCTTCTCCTGGACCACCAGCTCCTCCATGAGCCTCAGATACTCCCATGCCACACTGCGGAGGCTCCTCCCACCCTGGCCCATCTCGTCCCCCTGGCTATTGATACAGCTCCCCTTTGTGTGTGTCAACCTGTGGCAGATGCTCAGGGACTTCTCAGACTCTGGGGTCACTCTGAGTACACTGGGCACGCT...
GTGGTACCTGCGTGCGCCCCCCACCCCCGCCACCCCGCTGCTCACGAAGAGCAGCCCAAGGCCAAGGTGTTGCATTCAAGACCTCCACCTCCCCACCTGGCCCACCCACCTTTGCAGTCTTCCTTTCCCAGCTTCTCCTGGACCACCAGCTCCTCCATGAGCCTCAGATACTCCCATGCCACACTGCGGAGGCTCCTCCCACCCTGGCCCATCTCGTCCCCCTGGCTATTGATACAGCTCCCCTTTGTGTGTGTCAACCTGTGGCAGATGCTCAGGGACTTCTCAGACTCTGGGGTCACTCTGAGTACACTGGGCACGCT...
Task1_train_48778
A variant was discovered on Chromosome 22. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TGTGTAACAAAGGCAACAGCACGCTGTTTAGCCATCTATAGATGTCTTCCAGCTTAGTCACAGTAGCAAGATCCATAGAGAACCGATCACGAATAAACTGGTTATAGTAAAAGCAGTCAGTGTGACGTAGTAAGACGATAAGGATCAACAGAAGGGCTAGAAAGATAAAGTGAGTTAGAATGTAACTCAGAAACAGGAGTGCTCTTCTCTTGATCCTCTTCTTTCTTTTGAATATTCTGATTTCATCTTCTGTAAGGGGTTGGTACATCCTCGTGCCTCGGATTCGGACGATCTGGTCATGTATCCTCTGCATTTCTTCT...
TGTGTAACAAAGGCAACAGCACGCTGTTTAGCCATCTATAGATGTCTTCCAGCTTAGTCACAGTAGCAAGATCCATAGAGAACCGATCACGAATAAACTGGTTATAGTAAAAGCAGTCAGTGTGACGTAGTAAGACGATAAGGATCAACAGAAGGGCTAGAAAGATAAAGTGAGTTAGAATGTAACTCAGAAACAGGAGTGCTCTTCTCTTGATCCTCTTCTTTCTTTTGAATATTCTGATTTCATCTTCTGTAAGGGGTTGGTACATCCTCGTGCCTCGGATTCGGACGATCTGGTCATGTATCCTCTGCATTTCTTCT...
Task1_train_48779
A mutation found on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
AGTAACCTGCAGGTAAAAAATCCTTCTTTTGAATCAAAGTAGACAGCAATGAACTTGGTCCCACGGTGAAACTGAGTAACTGATTCAACACTGTCTTTGATGAATTTTTGTCAGTGGGAGCCTGTGCGGTGGCATGCAAAGTCACCTGAGAAAAAGCTCCTAGAGAATCATAGACCTGGGCATATATCTTCAAGCCATATTGACTAGCCAACATACCAACAGGGAGAAAGGAAGGGGGTACTGTGGACTGAGGCCCCAAGTACAGGATGGTCCCCAGGGTGTTCTCTTTTACTGAACTGATTTCACCAACACTGTGCAAA...
AGTAACCTGCAGGTAAAAAATCCTTCTTTTGAATCAAAGTAGACAGCAATGAACTTGGTCCCACGGTGAAACTGAGTAACTGATTCAACACTGTCTTTGATGAATTTTTGTCAGTGGGAGCCTGTGCGGTGGCATGCAAAGTCACCTGAGAAAAAGCTCCTAGAGAATCATAGACCTGGGCATATATCTTCAAGCCATATTGACTAGCCAACATACCAACAGGGAGAAAGGAAGGGGGTACTGTGGACTGAGGCCCCAAGTACAGGATGGTCCCCAGGGTGTTCTCTTTTACTGAACTGATTTCACCAACACTGTGCAAA...
Task1_train_48780
A variant has been detected on Chromosome 22. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
CAGCAATGAACTTGGTCCCACGGTGAAACTGAGTAACTGATTCAACACTGTCTTTGATGAATTTTTGTCAGTGGGAGCCTGTGCGGTGGCATGCAAAGTCACCTGAGAAAAAGCTCCTAGAGAATCATAGACCTGGGCATATATCTTCAAGCCATATTGACTAGCCAACATACCAACAGGGAGAAAGGAAGGGGGTACTGTGGACTGAGGCCCCAAGTACAGGATGGTCCCCAGGGTGTTCTCTTTTACTGAACTGATTTCACCAACACTGTGCAAATCAGAAACAATTATTTTATATGTAAGAGGGACGTGCTTATCCC...
CAGCAATGAACTTGGTCCCACGGTGAAACTGAGTAACTGATTCAACACTGTCTTTGATGAATTTTTGTCAGTGGGAGCCTGTGCGGTGGCATGCAAAGTCACCTGAGAAAAAGCTCCTAGAGAATCATAGACCTGGGCATATATCTTCAAGCCATATTGACTAGCCAACATACCAACAGGGAGAAAGGAAGGGGGTACTGTGGACTGAGGCCCCAAGTACAGGATGGTCCCCAGGGTGTTCTCTTTTACTGAACTGATTTCACCAACACTGTGCAAATCAGAAACAATTATTTTATATGTAAGAGGGACGTGCTTATCCC...
Task1_train_48781
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
GTGGCCAAAAAAACATGCAAGCCCATGCCTTGCAAGGAGCAAGAAGTGGTGGATAGGGTCCCCTCCCTTCTCCATTGCTCCCCTTTCGCCTCCTGTCCCTTGTGTTGCAGGCACCAACTCTTTGTCTTCAACACCAGCACCCCACAGACAACTACTGGGCAGGAAAAGCAGGCTGTGATGGGGCCAGGAGTGGTAACACATGGGCTCTGTGTCTGCAGCCCCAGGCTGGTGAGGGTAGGAGGAGCCAGGGCAGGAGCAGGCAGGCGGCAGGCACAGGCACAGCCACAGAGCTTGGGGACCTGGAGCTCCATCCAAGTGGC...
GTGGCCAAAAAAACATGCAAGCCCATGCCTTGCAAGGAGCAAGAAGTGGTGGATAGGGTCCCCTCCCTTCTCCATTGCTCCCCTTTCGCCTCCTGTCCCTTGTGTTGCAGGCACCAACTCTTTGTCTTCAACACCAGCACCCCACAGACAACTACTGGGCAGGAAAAGCAGGCTGTGATGGGGCCAGGAGTGGTAACACATGGGCTCTGTGTCTGCAGCCCCAGGCTGGTGAGGGTAGGAGGAGCCAGGGCAGGAGCAGGCAGGCGGCAGGCACAGGCACAGCCACAGAGCTTGGGGACCTGGAGCTCCATCCAAGTGGC...
Task1_train_48782
A mutation found on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TCTACACTGGGGAACCAAAGCCCCGGTTGGAAGCGGGTTCACCTTCTCCCATCCCGAATGCCACCAAGACACCGTCCGTCCACCTCTGAGAGGAGGTGGAGGCCGGAGACCATGTGCTCAGGGGTCTTTGGCCTGGCCGTTCTCAGTTCACGTGCCAGCATTACACTTTGCCTTCTCCAGGGTTTAATAAGGAGAACTTTATTCTTCCAGGGCGAATATGAGGCCGCGCTGACCATCTACGATACCCACGTAAGTTGCATTCACACCGTGTTTGGTTTGTTGCAGCATTTTGCCTTTGAGTCTCAAAGAGACCAGATTTT...
TCTACACTGGGGAACCAAAGCCCCGGTTGGAAGCGGGTTCACCTTCTCCCATCCCGAATGCCACCAAGACACCGTCCGTCCACCTCTGAGAGGAGGTGGAGGCCGGAGACCATGTGCTCAGGGGTCTTTGGCCTGGCCGTTCTCAGTTCACGTGCCAGCATTACACTTTGCCTTCTCCAGGGTTTAATAAGGAGAACTTTATTCTTCCAGGGCGAATATGAGGCCGCGCTGACCATCTACGATACCCACGTAAGTTGCATTCACACCGTGTTTGGTTTGTTGCAGCATTTTGCCTTTGAGTCTCAAAGAGACCAGATTTT...
Task1_train_48783
This variant lies on Chromosome 22. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
GCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCCGGCCTTCATTGTTTATTAAGATAAAAACATTTATGGGAGAGCTTTATAAGCTTTACAGTATTGAGCAAATACTGTATTTCAGTGCATTTTGATAAATATTTGCTAAGTGTCCAGGCCCTTAGCTGGACATTTGGGAATTTGGGTTAGTGTTAGACACTGTTATCTTGGAGGAGCTTATAGTCTAGTTGGGGCCATAGAAGGGTCAAGAGGCACTCACAGAGGCTAGTGCAGTGGTAGAAGTGAGGTCCAGGCACTGCGGGAGCCTTG...
GCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCCGGCCTTCATTGTTTATTAAGATAAAAACATTTATGGGAGAGCTTTATAAGCTTTACAGTATTGAGCAAATACTGTATTTCAGTGCATTTTGATAAATATTTGCTAAGTGTCCAGGCCCTTAGCTGGACATTTGGGAATTTGGGTTAGTGTTAGACACTGTTATCTTGGAGGAGCTTATAGTCTAGTTGGGGCCATAGAAGGGTCAAGAGGCACTCACAGAGGCTAGTGCAGTGGTAGAAGTGAGGTCCAGGCACTGCGGGAGCCTTG...
Task1_train_48784
Given this variant on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
CAAAATCCATCATCACTTATGTCCATAGTGATTTGGTGGAGGATGCGAACTGCTTGCCCTGTTCCCTTCAATCTGGCTGATGAATGGAGGGGCATGTGTAGCACTGGGGAAGATGGGGCCTAGGCTCGCTCTGAATGGAAGCCTGAGTATCTCTGTACATTGTTAAGCACTAGACAGTTCTCACAGTTCAAATTAAAATTTTCAGCCCAAGAAAGAGATTCCAGCTAGTCCTTCCAGGACAAAAATCCCAGCTGAGAAGGAATCCCACCGGGATGTTCTCCCTGACAAACCTGCCCCGGGTGCTGTCAATGTGCCGGCCG...
CAAAATCCATCATCACTTATGTCCATAGTGATTTGGTGGAGGATGCGAACTGCTTGCCCTGTTCCCTTCAATCTGGCTGATGAATGGAGGGGCATGTGTAGCACTGGGGAAGATGGGGCCTAGGCTCGCTCTGAATGGAAGCCTGAGTATCTCTGTACATTGTTAAGCACTAGACAGTTCTCACAGTTCAAATTAAAATTTTCAGCCCAAGAAAGAGATTCCAGCTAGTCCTTCCAGGACAAAAATCCCAGCTGAGAAGGAATCCCACCGGGATGTTCTCCCTGACAAACCTGCCCCGGGTGCTGTCAATGTGCCGGCCG...
Task1_train_48785
A variant found on Chromosome 22 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
AGGGATTATGGGATGACTTAGTCACAGACCACCCCACTCCATACAAGAAAACAAACACCAGCCTGGGCGACACAGTGAGACCCCGATTCTACAAAAACATTTAGCTGGGCATGGTGCTGGGCACCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAAGATTACTTGAACCCAGGAGTTCAAGGCTGCAGTGAGCAGTGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTTGTAAGAAAGAAAAGAAACAAACAAACTGAAAACGGAGGTGGAGAGAGGGTGGGAGCATGTTTGACTCAG...
AGGGATTATGGGATGACTTAGTCACAGACCACCCCACTCCATACAAGAAAACAAACACCAGCCTGGGCGACACAGTGAGACCCCGATTCTACAAAAACATTTAGCTGGGCATGGTGCTGGGCACCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAAGATTACTTGAACCCAGGAGTTCAAGGCTGCAGTGAGCAGTGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTTGTAAGAAAGAAAAGAAACAAACAAACTGAAAACGGAGGTGGAGAGAGGGTGGGAGCATGTTTGACTCAG...
Task1_train_48786
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
CCTCCTGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGCCTCGTGATCCACCAGCCTTGGCCTCGCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCGGAATTTTTATTTTCACTGGAATTTGTGGTGGGGCTGCCAGAACTTAGCAATAAAGGGAGGAGGGTGGGGAATCCTAGAACTTCGCGGAGAGCAGCAGCTGGGGTTGA...
CCTCCTGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGCCTCGTGATCCACCAGCCTTGGCCTCGCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCGGAATTTTTATTTTCACTGGAATTTGTGGTGGGGCTGCCAGAACTTAGCAATAAAGGGAGGAGGGTGGGGAATCCTAGAACTTCGCGGAGAGCAGCAGCTGGGGTTGA...
Task1_train_48787
This sequence change occurs on Chromosome 22. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
ATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTC...
ATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTC...
Task1_train_48788
Here is a genetic alteration on Chromosome 22. Based on the data, is it a benign variant or a cause of disease?
Benign
GCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGG...
GCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGG...
Task1_train_48789
This alteration occurs on Chromosome 22. Is it associated with a disease or is it a benign variant?
Benign
GAACCTGCAACGCTTTAAGGTCCCAGGTCCCACGGGGAGCAGGAGCAAAGGACAAAGCCATCCCCACCTGCAGCTCCCGGGCCACCTGGGAGGCGGTGAGGGGAGGGGGTGGTGGTCACAGAATGACCAGGTGAAAAATGACAGCCGTGTGGCAACCGTGCCCCACAGTGACCTCAGCAGGGCTCCTCACACCTGCCTAGTGCTGCACTGCCCTGTCTTGAATTCACACAGCCGGGGCAGATGGCAGCAGAGGACAAACGCACACACAGCGAACACTGGGGACCCAGGGGGCCGGCGGGGAGGGCCCACACCATCCTCAC...
GAACCTGCAACGCTTTAAGGTCCCAGGTCCCACGGGGAGCAGGAGCAAAGGACAAAGCCATCCCCACCTGCAGCTCCCGGGCCACCTGGGAGGCGGTGAGGGGAGGGGGTGGTGGTCACAGAATGACCAGGTGAAAAATGACAGCCGTGTGGCAACCGTGCCCCACAGTGACCTCAGCAGGGCTCCTCACACCTGCCTAGTGCTGCACTGCCCTGTCTTGAATTCACACAGCCGGGGCAGATGGCAGCAGAGGACAAACGCACACACAGCGAACACTGGGGACCCAGGGGGCCGGCGGGGAGGGCCCACACCATCCTCAC...
Task1_train_48790
Mutation context: Chromosome 22. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
ATCTGCTGGGGCACCAGTTTCGTCAACACATGCCAGATTCAAGTACAACTGTGCAATCTTGACAGAGAAGACAGCAAGAGATCATTGCATGGATCTCTCGGGATAACAAAGTCAGCACGAATGCAATATATATACAGGTTGCACCTCCTCAGAGTCCCATACAAATATATAAAAGTATCTCCACCTTTCCCACATAGCGAAGTGATTTTAAGACAAGGGGTGCCTTTGCAAAGGACTGCCCGGGCTGCCAGCCACGGGTCCGCACTGCCATGAGATGCCCGCCTGGGCGGGGCTGGACCGCGGTCTTTGGTCTGTGCCCG...
ATCTGCTGGGGCACCAGTTTCGTCAACACATGCCAGATTCAAGTACAACTGTGCAATCTTGACAGAGAAGACAGCAAGAGATCATTGCATGGATCTCTCGGGATAACAAAGTCAGCACGAATGCAATATATATACAGGTTGCACCTCCTCAGAGTCCCATACAAATATATAAAAGTATCTCCACCTTTCCCACATAGCGAAGTGATTTTAAGACAAGGGGTGCCTTTGCAAAGGACTGCCCGGGCTGCCAGCCACGGGTCCGCACTGCCATGAGATGCCCGCCTGGGCGGGGCTGGACCGCGGTCTTTGGTCTGTGCCCG...
Task1_train_48791
Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CTTGTGAGTTTGGAGGGAGGGAGGGGCGACAGGGAGAGGTCTGGGGCCAGGACCCCAGCTCCACCCCGCCCCCTTCACCCCTGGCATTCCGGGACCCTCAGTATCCTCAACTGCAAGGTGGGTGGCAGTGGTCCCAGGCGGAGACAATGCTGATCAAACGCAGAGCCCAGCACCTTAGGTCCTAGCATTTTGGGGCTGGCCAGGGCTTCAGAGTCCCAGAGGCCTGAGACGTGTCCCCAGGATAGGGGGTCTGCCCATCTCCGGGGTATCCTCCTGACCTCAGCTGCAGCGCCTCCCCCCTCCCCCATCCCCGCCTGGGC...
CTTGTGAGTTTGGAGGGAGGGAGGGGCGACAGGGAGAGGTCTGGGGCCAGGACCCCAGCTCCACCCCGCCCCCTTCACCCCTGGCATTCCGGGACCCTCAGTATCCTCAACTGCAAGGTGGGTGGCAGTGGTCCCAGGCGGAGACAATGCTGATCAAACGCAGAGCCCAGCACCTTAGGTCCTAGCATTTTGGGGCTGGCCAGGGCTTCAGAGTCCCAGAGGCCTGAGACGTGTCCCCAGGATAGGGGGTCTGCCCATCTCCGGGGTATCCTCCTGACCTCAGCTGCAGCGCCTCCCCCCTCCCCCATCCCCGCCTGGGC...
Task1_train_48792
The following genetic variant occurs on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TGGACCCAGATACTTCTATGCCCATGTTCACAGCAGCACCATTCACACAGGCCAAAAGGTGGAAACAACTCAGGCATGGGTCAACAGGTGAGTGGATAAGCAACACGCGCTCCATCCGCACAATGGAATATTACTCAGCCTTCAAAAGGAGGGGAAGTCTGACAGTTGCTGCGGCGCAGGTGAACCTAGCGGACATTAGGCTCGGTGAAATAAGCCAATCACAAAAGGACAAATATCGTGTGACTCCTCTTACAGGAGGTCCCTAGAGGAGTCAAATTCAAAGACAGAAAGAACGGTAGGCACCAGGGGCTGGGGAGGAG...
TGGACCCAGATACTTCTATGCCCATGTTCACAGCAGCACCATTCACACAGGCCAAAAGGTGGAAACAACTCAGGCATGGGTCAACAGGTGAGTGGATAAGCAACACGCGCTCCATCCGCACAATGGAATATTACTCAGCCTTCAAAAGGAGGGGAAGTCTGACAGTTGCTGCGGCGCAGGTGAACCTAGCGGACATTAGGCTCGGTGAAATAAGCCAATCACAAAAGGACAAATATCGTGTGACTCCTCTTACAGGAGGTCCCTAGAGGAGTCAAATTCAAAGACAGAAAGAACGGTAGGCACCAGGGGCTGGGGAGGAG...
Task1_train_48793
A genomic change on Chromosome 22 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
AAAAGAAACCAGAAAGGAAACTTGTTTGTGGAGTCACGCATGGAGAACAAACGCCACTGGCCCAACTCTCAGGCTGGGACTCAAATCCCAGCAAGGGGACCCTGCCTGGTCTCTGGCGGCCTTATGCAGACTAGAAGGTTCCATGGGGGCCCTGCATGGACTGGAGGCCCTTTGTGGATGAGGAGGTCCCTGAGGGCTCCGTGGGGATGGGTGGGAGGGACAGGGTGTCCCCCATGGGCTCTGTGTGGACAGGCACTCCTCTGGGGGTCCTGTCTGGACGAAGAGGCCTGCAGCAGAGCCACAACGAAACTTCTGGAGCC...
AAAAGAAACCAGAAAGGAAACTTGTTTGTGGAGTCACGCATGGAGAACAAACGCCACTGGCCCAACTCTCAGGCTGGGACTCAAATCCCAGCAAGGGGACCCTGCCTGGTCTCTGGCGGCCTTATGCAGACTAGAAGGTTCCATGGGGGCCCTGCATGGACTGGAGGCCCTTTGTGGATGAGGAGGTCCCTGAGGGCTCCGTGGGGATGGGTGGGAGGGACAGGGTGTCCCCCATGGGCTCTGTGTGGACAGGCACTCCTCTGGGGGTCCTGTCTGGACGAAGAGGCCTGCAGCAGAGCCACAACGAAACTTCTGGAGCC...
Task1_train_48794
Given this context: Chromosome 22 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CTCTCTATTTTGAAAATACTCTACTCTATGTCTCTATTTTAAAAATAAAAAAATTAGCAGGGTGTGGTGGTGGGCACCTGTAAGTCCCAACTACCAGGGAGGCTGAGGCAGAATCGCTTGAATCCGGGAAGCAGAGGTTGCAGCAAGCTGAGACCGTGCCACTGTCCTCTAGCTTAGGAGATAGAGTGAGACTCCATCTCCAAAAAAAGAAACAAAAAACAAAAAGCCCAAAAATGAGCACTGCTGACAGCTAGACCATGGAAACGAGGGTCTGGTGGGCCAAAGAGGGCTCAGAGAAAGATAGCGAGTGGGAGACGTGG...
CTCTCTATTTTGAAAATACTCTACTCTATGTCTCTATTTTAAAAATAAAAAAATTAGCAGGGTGTGGTGGTGGGCACCTGTAAGTCCCAACTACCAGGGAGGCTGAGGCAGAATCGCTTGAATCCGGGAAGCAGAGGTTGCAGCAAGCTGAGACCGTGCCACTGTCCTCTAGCTTAGGAGATAGAGTGAGACTCCATCTCCAAAAAAAGAAACAAAAAACAAAAAGCCCAAAAATGAGCACTGCTGACAGCTAGACCATGGAAACGAGGGTCTGGTGGGCCAAAGAGGGCTCAGAGAAAGATAGCGAGTGGGAGACGTGG...
Task1_train_48795
This genomic variant is located on Chromosome 22. Can you determine its pathogenicity and name any linked disease?
Benign
AGGGACACGGGAGAGCCATCAGTATTTTCTCCAGCATCAAATTTGTTGAGCTTTTCCTGAAATTAATTGCTACTTCCTTCATCCAGCTCCTGCTGTCTCCTGTCCCGCAACACAAGAAGCCAGGGGCTTTCAGCAGCCACTTGGGCCGATTCCAACCTTGCAACCGTGAGGCCCCCGAGCTCGGCTTACCAGGGAGCAAGTAATAAAACCCCTCTGCCGACAGCACCACTTTCATCGTGAATAAATGAGCTCAATTACCTCCACGCAGAAAAAGGAGCGCTTCAAAGGGAAAGAGGGAAAAGGGGAGGAAGAGGGACGGA...
AGGGACACGGGAGAGCCATCAGTATTTTCTCCAGCATCAAATTTGTTGAGCTTTTCCTGAAATTAATTGCTACTTCCTTCATCCAGCTCCTGCTGTCTCCTGTCCCGCAACACAAGAAGCCAGGGGCTTTCAGCAGCCACTTGGGCCGATTCCAACCTTGCAACCGTGAGGCCCCCGAGCTCGGCTTACCAGGGAGCAAGTAATAAAACCCCTCTGCCGACAGCACCACTTTCATCGTGAATAAATGAGCTCAATTACCTCCACGCAGAAAAAGGAGCGCTTCAAAGGGAAAGAGGGAAAAGGGGAGGAAGAGGGACGGA...
Task1_train_48796
This is a variant located on Chromosome 22. Is this mutation a likely cause of disease or not?
Benign
CTGCTTGTAGTCCAGAGGTAGCGCCAGGGTGATGAGGCCGCCCCCTCTCTGGCTGCTGAGTGCAAAGCGGTTCCGGGTGTTGCCGCCTGTGAGCTGGTAGGTAATCACACTGTTGGCGTCACGGTCGCGGGCCTGCAGGGTCAGCACGCTGCTCCCCACGGCCGCATCCTCATTCAGACGAAGCTCGTAGGTGGGCTGCGTGAACACCGGGTCGTTGTCATTCACGTCCAGCACCGTGATGGACACGCTGGTGGAGGAGCTCATGGGGGGCGAGCCGTGGTCCACCGCCTCCACCCCGAAGCTGTAGTGCTCCACCTCCT...
CTGCTTGTAGTCCAGAGGTAGCGCCAGGGTGATGAGGCCGCCCCCTCTCTGGCTGCTGAGTGCAAAGCGGTTCCGGGTGTTGCCGCCTGTGAGCTGGTAGGTAATCACACTGTTGGCGTCACGGTCGCGGGCCTGCAGGGTCAGCACGCTGCTCCCCACGGCCGCATCCTCATTCAGACGAAGCTCGTAGGTGGGCTGCGTGAACACCGGGTCGTTGTCATTCACGTCCAGCACCGTGATGGACACGCTGGTGGAGGAGCTCATGGGGGGCGAGCCGTGGTCCACCGCCTCCACCCCGAAGCTGTAGTGCTCCACCTCCT...
Task1_train_48797
This variant is located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Benign
ATGTTTAAGTTTGTCTTCTTGAATGGTGATACCTTTTCAGAGGTTTAAAGAAATCTGTTTACTTTATGAGGGAAATTTAGAGCATCCACCCACCCACCTGTCCATCCACTCATCTGCTCGCCTGCTCACTCATCCATGCCTCCCTCCCTGAGGAAGTCTCCACTGATAGGTCAGGTGCTGCTGCACGGTGGCCCGCGGGGTGTGGAGGAGCAGAGCGCTTCTGCTGGGAGAGCCAGCTCAGGGACGGACTGAGCCAGGGGCTGCTGAAGTGCTGCACATTGCTTGTGGGACAATAAATAATTTTTTTTAAAATCAAGTTT...
ATGTTTAAGTTTGTCTTCTTGAATGGTGATACCTTTTCAGAGGTTTAAAGAAATCTGTTTACTTTATGAGGGAAATTTAGAGCATCCACCCACCCACCTGTCCATCCACTCATCTGCTCGCCTGCTCACTCATCCATGCCTCCCTCCCTGAGGAAGTCTCCACTGATAGGTCAGGTGCTGCTGCACGGTGGCCCGCGGGGTGTGGAGGAGCAGAGCGCTTCTGCTGGGAGAGCCAGCTCAGGGACGGACTGAGCCAGGGGCTGCTGAAGTGCTGCACATTGCTTGTGGGACAATAAATAATTTTTTTTAAAATCAAGTTT...
Task1_train_48798
Here’s a variant located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Benign
TTTAAAGAAATCTGTTTACTTTATGAGGGAAATTTAGAGCATCCACCCACCCACCTGTCCATCCACTCATCTGCTCGCCTGCTCACTCATCCATGCCTCCCTCCCTGAGGAAGTCTCCACTGATAGGTCAGGTGCTGCTGCACGGTGGCCCGCGGGGTGTGGAGGAGCAGAGCGCTTCTGCTGGGAGAGCCAGCTCAGGGACGGACTGAGCCAGGGGCTGCTGAAGTGCTGCACATTGCTTGTGGGACAATAAATAATTTTTTTTAAAATCAAGTTTCAATTGTCTTAAGGGCCGTGCGTGGTGGCTCATTCCTGTAATC...
TTTAAAGAAATCTGTTTACTTTATGAGGGAAATTTAGAGCATCCACCCACCCACCTGTCCATCCACTCATCTGCTCGCCTGCTCACTCATCCATGCCTCCCTCCCTGAGGAAGTCTCCACTGATAGGTCAGGTGCTGCTGCACGGTGGCCCGCGGGGTGTGGAGGAGCAGAGCGCTTCTGCTGGGAGAGCCAGCTCAGGGACGGACTGAGCCAGGGGCTGCTGAAGTGCTGCACATTGCTTGTGGGACAATAAATAATTTTTTTTAAAATCAAGTTTCAATTGTCTTAAGGGCCGTGCGTGGTGGCTCATTCCTGTAATC...
Task1_train_48799
A mutation is present on Chromosome 22. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GCAATGGAGGAAGCCACTGATAAAAAAAAAAAGCTAAAAAGGTAACTTACTGCTCTACAGTGAAAATGGTACAACTGTGTGCGAAGAGAAGCGCTGGAAGCTATTTTGAGAATGGTGAGTGGACCTGCTGGCAACCTCCTCACAGCTCAGTCCTCAGGGCACAGAAGACAAGGACAGAAGGGCAGTCCACCTAGAGGGAGGCCCACACAGCCAGAGGATGCCTCGGTGGGCTGCACGGAAGCAAAGGCTGCGGGACCAGGCACCAGCCTGGACTCCTGGGCACAATGGGGCGGCCCAGGGCCCGGACAGGTATGGCTGCC...
GCAATGGAGGAAGCCACTGATAAAAAAAAAAAGCTAAAAAGGTAACTTACTGCTCTACAGTGAAAATGGTACAACTGTGTGCGAAGAGAAGCGCTGGAAGCTATTTTGAGAATGGTGAGTGGACCTGCTGGCAACCTCCTCACAGCTCAGTCCTCAGGGCACAGAAGACAAGGACAGAAGGGCAGTCCACCTAGAGGGAGGCCCACACAGCCAGAGGATGCCTCGGTGGGCTGCACGGAAGCAAAGGCTGCGGGACCAGGCACCAGCCTGGACTCCTGGGCACAATGGGGCGGCCCAGGGCCCGGACAGGTATGGCTGCC...