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_42000
Located on Chromosome 12, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
AAAATATTGAGGGCCAGACGAAGTGGTTCACGGCTCTAATCTCAATACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCTTGGAGTTTGAGACCAGCCTGGGCCACATAGCAAGACTCCATCTCTTAAAAAAAATTTTTTTTATGATGGTACCACTTTGTATATATCTGGTTCCCTTCCTCCAAGGAACACTAATATTGAGTATAATCATTGTTATGTCCCTGAGATATAAGATGTTTCTATAAACTGTTTCACAGATGAAGATACTTAGGTTACATCTGACAATCCTTTAAATGATTTGAAGAGGAAAAAGAATGT...
AAAATATTGAGGGCCAGACGAAGTGGTTCACGGCTCTAATCTCAATACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCTTGGAGTTTGAGACCAGCCTGGGCCACATAGCAAGACTCCATCTCTTAAAAAAAATTTTTTTTATGATGGTACCACTTTGTATATATCTGGTTCCCTTCCTCCAAGGAACACTAATATTGAGTATAATCATTGTTATGTCCCTGAGATATAAGATGTTTCTATAAACTGTTTCACAGATGAAGATACTTAGGTTACATCTGACAATCCTTTAAATGATTTGAAGAGGAAAAAGAATGT...
Task1_train_42001
A mutation is present on Chromosome 12. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TCTTAAAAAAAATTTTTTTTATGATGGTACCACTTTGTATATATCTGGTTCCCTTCCTCCAAGGAACACTAATATTGAGTATAATCATTGTTATGTCCCTGAGATATAAGATGTTTCTATAAACTGTTTCACAGATGAAGATACTTAGGTTACATCTGACAATCCTTTAAATGATTTGAAGAGGAAAAAGAATGTGTGTTTAAGATCTCTTTGATGAAAAGATCTAAAGAATCCATGATACTAATTAAGATGTATTAAGAAAAAAATGGCTTTAACTAATTCTACGCTCTTCCAGTGACCTTAGATAGACAGTCAAGCTG...
TCTTAAAAAAAATTTTTTTTATGATGGTACCACTTTGTATATATCTGGTTCCCTTCCTCCAAGGAACACTAATATTGAGTATAATCATTGTTATGTCCCTGAGATATAAGATGTTTCTATAAACTGTTTCACAGATGAAGATACTTAGGTTACATCTGACAATCCTTTAAATGATTTGAAGAGGAAAAAGAATGTGTGTTTAAGATCTCTTTGATGAAAAGATCTAAAGAATCCATGATACTAATTAAGATGTATTAAGAAAAAAATGGCTTTAACTAATTCTACGCTCTTCCAGTGACCTTAGATAGACAGTCAAGCTG...
Task1_train_42002
This mutation on Chromosome 12 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
TCACCTTCACTCCTCCATCCCTGTTGTGCCACTAAAGTGACTCTCATAAAGGGCCACCGCTGACTCCTACTTGCTCTAGCATACGGACACTTTCAGTCAGTTCTCTTGACCTCTCCGTAGACTGTAACTTACCACTTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATCACCCAAGCTGGAGTGAAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCCACCGGGTTCAAGCAATTCTCCTGCCGCAGCCTCCTGAGTACCTGGGATTGTAGGCACCTGCCACCACACCTGACTAATTTTTGTATTTT...
TCACCTTCACTCCTCCATCCCTGTTGTGCCACTAAAGTGACTCTCATAAAGGGCCACCGCTGACTCCTACTTGCTCTAGCATACGGACACTTTCAGTCAGTTCTCTTGACCTCTCCGTAGACTGTAACTTACCACTTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATCACCCAAGCTGGAGTGAAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCCACCGGGTTCAAGCAATTCTCCTGCCGCAGCCTCCTGAGTACCTGGGATTGTAGGCACCTGCCACCACACCTGACTAATTTTTGTATTTT...
Task1_train_42003
The following genetic variant occurs on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TTCAGAGGGCAGAATGGAATGGGTTGGGAGAGGATTTGGTTAAGATTTGCTGAAAACCCTGAACTTTTGGTAAATACTGCTCTGTGTGGGAAATGTTTCAATGAGAATTGACTCTTAATTAACTCTCACTCTTGGATATCCCTTGAACAAGTTGTCTGGAGAGTTCCTCAGGATAATGTCTACTTGCAACAACAGTAATAATATTTATCAAGTGCTTGTGTTACCTCATAAACTCTCACACTAACCCTGTGAGGTATGTATTATTATCTTCCACTTCTTTTGAATGAAGACAGCTAGACTTAGAGTGGTTAAGAAGTGTT...
TTCAGAGGGCAGAATGGAATGGGTTGGGAGAGGATTTGGTTAAGATTTGCTGAAAACCCTGAACTTTTGGTAAATACTGCTCTGTGTGGGAAATGTTTCAATGAGAATTGACTCTTAATTAACTCTCACTCTTGGATATCCCTTGAACAAGTTGTCTGGAGAGTTCCTCAGGATAATGTCTACTTGCAACAACAGTAATAATATTTATCAAGTGCTTGTGTTACCTCATAAACTCTCACACTAACCCTGTGAGGTATGTATTATTATCTTCCACTTCTTTTGAATGAAGACAGCTAGACTTAGAGTGGTTAAGAAGTGTT...
Task1_train_42004
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
GTGGGAAATGTTTCAATGAGAATTGACTCTTAATTAACTCTCACTCTTGGATATCCCTTGAACAAGTTGTCTGGAGAGTTCCTCAGGATAATGTCTACTTGCAACAACAGTAATAATATTTATCAAGTGCTTGTGTTACCTCATAAACTCTCACACTAACCCTGTGAGGTATGTATTATTATCTTCCACTTCTTTTGAATGAAGACAGCTAGACTTAGAGTGGTTAAGAAGTGTTCACAGTCGTCACATTGCTCCTAAGTGGGCCACTACTACAGCCAAGGCAACACATGCTGGAACCTGTCAAGTACCCAGAGAATATC...
GTGGGAAATGTTTCAATGAGAATTGACTCTTAATTAACTCTCACTCTTGGATATCCCTTGAACAAGTTGTCTGGAGAGTTCCTCAGGATAATGTCTACTTGCAACAACAGTAATAATATTTATCAAGTGCTTGTGTTACCTCATAAACTCTCACACTAACCCTGTGAGGTATGTATTATTATCTTCCACTTCTTTTGAATGAAGACAGCTAGACTTAGAGTGGTTAAGAAGTGTTCACAGTCGTCACATTGCTCCTAAGTGGGCCACTACTACAGCCAAGGCAACACATGCTGGAACCTGTCAAGTACCCAGAGAATATC...
Task1_train_42005
A mutation located on Chromosome 12 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
GGTTTGCTTTCAGCCCATGTCTTGTGCTTATTGACAGAAACCAGCCAAAACCATCTGTTGTCTCCACCTGGCAACCTATAGGAGACATGGGAAGAGAAGAAGAGGAACCAGATCTTTTTGTGGACAGCTCTTTTGCAAAGCCGTCCGGCCTGAATATTCAGTCTGACATAATGACTTACATTCATAAATTCTAAAATGTTAAATATTTAAAAGAAATATTTTCTCAGAAACATAACTATGTTTCTTCAACTTGTGTCCTGGTAGAAGTTTTTTAAGGAGCAAGGAAGGAGTAATGAAGAGAGAAGCATGATTTATTATTA...
GGTTTGCTTTCAGCCCATGTCTTGTGCTTATTGACAGAAACCAGCCAAAACCATCTGTTGTCTCCACCTGGCAACCTATAGGAGACATGGGAAGAGAAGAAGAGGAACCAGATCTTTTTGTGGACAGCTCTTTTGCAAAGCCGTCCGGCCTGAATATTCAGTCTGACATAATGACTTACATTCATAAATTCTAAAATGTTAAATATTTAAAAGAAATATTTTCTCAGAAACATAACTATGTTTCTTCAACTTGTGTCCTGGTAGAAGTTTTTTAAGGAGCAAGGAAGGAGTAATGAAGAGAGAAGCATGATTTATTATTA...
Task1_train_42006
Here’s a variant located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
Benign
TTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCACCTCAGCTTCCCAAGCAGCTGGGACTACAGGTACCTGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAAGGTCTCAATCTCCTGACCTCGTGAATCGCCCCCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAAATATTTTTTATTCAGGATGGTATAACCTA...
TTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCACCTCAGCTTCCCAAGCAGCTGGGACTACAGGTACCTGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAAGGTCTCAATCTCCTGACCTCGTGAATCGCCCCCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAAATATTTTTTATTCAGGATGGTATAACCTA...
Task1_train_42007
This variant lies on Chromosome 12. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
GGGGCTCATTCCTGTAATCCCAGCACTGTGGGAGGTCGAGGCCTGCGGATCCCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCGGAACCTCGTCTCTATTGAAAATACAAGAAATTAGCCAGACGTGGTGGCCCATGCCTGTAGTTCCAGCTACTCCAGAGGCTGAAGTGGGAGAATCACCTGAGCCTGGGAAGTCGATTACAGTGAGCCGTAATCGCACCACTGCCCTCCGGCCTGGGTGACGGGAGTGAGACCCTATCTCAAAAGAAAAAAAGTTCTGCTAAGGATGCATTATAGTTAAGACGCCTGTT...
GGGGCTCATTCCTGTAATCCCAGCACTGTGGGAGGTCGAGGCCTGCGGATCCCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCGGAACCTCGTCTCTATTGAAAATACAAGAAATTAGCCAGACGTGGTGGCCCATGCCTGTAGTTCCAGCTACTCCAGAGGCTGAAGTGGGAGAATCACCTGAGCCTGGGAAGTCGATTACAGTGAGCCGTAATCGCACCACTGCCCTCCGGCCTGGGTGACGGGAGTGAGACCCTATCTCAAAAGAAAAAAAGTTCTGCTAAGGATGCATTATAGTTAAGACGCCTGTT...
Task1_train_42008
This variant is found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
AGCATGCCCTGCTAATTTTTGTATTGTTAGTAGACACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATGGGCGTGAGCCACTGTGCCCAGGCCCTTATTTATTCTTTATACTTATTATCTGTCTTTTAATATCTGTTCTCACATTAAAAACAGGTTTCAGGAATGAGAATAGGGGCCTAAAAAGCTTAAGTTTATTAGAGACTTGAACTACAGTATTCCACACTTAAGAGTCTTCTAAGATTTAGGGGGTAAATCTGTAAGATT...
AGCATGCCCTGCTAATTTTTGTATTGTTAGTAGACACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATGGGCGTGAGCCACTGTGCCCAGGCCCTTATTTATTCTTTATACTTATTATCTGTCTTTTAATATCTGTTCTCACATTAAAAACAGGTTTCAGGAATGAGAATAGGGGCCTAAAAAGCTTAAGTTTATTAGAGACTTGAACTACAGTATTCCACACTTAAGAGTCTTCTAAGATTTAGGGGGTAAATCTGTAAGATT...
Task1_train_42009
Given this variant on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
AAGAAAAATAAAAAAAAACCCTCTAAAAATTAAAACTGATGTATTATTATAGAACATTTGGACTTGCCCATAGGAATGGTTTAAATTGAGTTAATTAAGTGCTACCAGTGTAAGCACTAAAGGAAAGATTTTAAAAATTGTCAGCAGATGATTTTATTGGGATACATGTCTGTTAGGAAATACTTGTGAGATGATGGATGAGTACTAAAGATCCTGTCACATATTTGCATGTTTATACCTGCAATGAGTTGATTTAGTATATTAAGTACATAGCCTTTTGGTGGTTATAAAGTTAATTAGTATGTTTGTATTGTTAGATT...
AAGAAAAATAAAAAAAAACCCTCTAAAAATTAAAACTGATGTATTATTATAGAACATTTGGACTTGCCCATAGGAATGGTTTAAATTGAGTTAATTAAGTGCTACCAGTGTAAGCACTAAAGGAAAGATTTTAAAAATTGTCAGCAGATGATTTTATTGGGATACATGTCTGTTAGGAAATACTTGTGAGATGATGGATGAGTACTAAAGATCCTGTCACATATTTGCATGTTTATACCTGCAATGAGTTGATTTAGTATATTAAGTACATAGCCTTTTGGTGGTTATAAAGTTAATTAGTATGTTTGTATTGTTAGATT...
Task1_train_42010
A genomic variant on Chromosome 12 is under review. What is the biological outcome — benign or pathogenic?
Benign
AATGATTATATAGGGTAGGATTATTGTTGAAATAAAGACCTAGTAACTTACCTAGCCTCTCTAAGTCTCAGCTGACTCATCTGAAAATAAGAAGAATGTGGAAGAATTCGGCAGTTTGTTGTGAGAGTTTAATGTGGTACTACTACATATAAAGCACTTTCAACAGTGCCTGGAACCTCAAAAGTGCTATTATTATCTATAAGTATGAGAAAAGCCAGTAACCCAGTTGTATTTTCTCAAGTGAATCTGTGATTTTACTTAGGATATATTTTATGTAGGATGCTTCTTTCAAACAGTAAATTTCAGGTTTGTTCTTACAC...
AATGATTATATAGGGTAGGATTATTGTTGAAATAAAGACCTAGTAACTTACCTAGCCTCTCTAAGTCTCAGCTGACTCATCTGAAAATAAGAAGAATGTGGAAGAATTCGGCAGTTTGTTGTGAGAGTTTAATGTGGTACTACTACATATAAAGCACTTTCAACAGTGCCTGGAACCTCAAAAGTGCTATTATTATCTATAAGTATGAGAAAAGCCAGTAACCCAGTTGTATTTTCTCAAGTGAATCTGTGATTTTACTTAGGATATATTTTATGTAGGATGCTTCTTTCAAACAGTAAATTTCAGGTTTGTTCTTACAC...
Task1_train_42011
Here is a mutation located on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CTTGTAAGTAAGTGGAATTAAAAAATGGAATATATTAATAGTATTCTCAATCTTTTATAAAATGTTTCATTCCATAAAAATCGTTTTTATTTCTTTTATTTACTTTTAAACTTAAGATATGACTACTTATATTCTTATTAAATTCACATCACACAAGATAATGGTAGCATTGAAATGCTTTACAATGTAGGTTATTAGTTACTTATTATAAAGAACATATATGTTGCAACACTAATATCCACCTGCTATTTGTTGCATCTAATTAGAGGTTGTGTGTGCATCTGTGTATCAAGGTAAGTAATTTTTAAAGCCAAGTTTAA...
CTTGTAAGTAAGTGGAATTAAAAAATGGAATATATTAATAGTATTCTCAATCTTTTATAAAATGTTTCATTCCATAAAAATCGTTTTTATTTCTTTTATTTACTTTTAAACTTAAGATATGACTACTTATATTCTTATTAAATTCACATCACACAAGATAATGGTAGCATTGAAATGCTTTACAATGTAGGTTATTAGTTACTTATTATAAAGAACATATATGTTGCAACACTAATATCCACCTGCTATTTGTTGCATCTAATTAGAGGTTGTGTGTGCATCTGTGTATCAAGGTAAGTAATTTTTAAAGCCAAGTTTAA...
Task1_train_42012
Consider this mutation on Chromosome 12. Is this a benign change or a disease-causing variant?
Benign
TAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGGAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAATAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAAACCCTAGAACAAAACCTAGGCATTACCATTCAGGACATAGACATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTAACATCAGATTGAACAGGCAACCTACAAAATGGGAGAAA...
TAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGGAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAATAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAAACCCTAGAACAAAACCTAGGCATTACCATTCAGGACATAGACATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTAACATCAGATTGAACAGGCAACCTACAAAATGGGAGAAA...
Task1_train_42013
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
AGCTTGATGGGGATAGCATTGAATCTATAAATTACTTTGGGCAGTATGGCCATTTTCACAATATTGTTGCTTTCTATCCATGACCATGGAATGTTTTTCCACTTGTTTGTGTCCTCTCTCATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAACTTGTATTCCTAGGTATTTTATTATCTTTATAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTGTTATATTGGTGTATAGAAATGCTTTTGAAAAATAAGCCTGTATAGCCAAGACAATCCTAAGCAAAAGGAACAAA...
AGCTTGATGGGGATAGCATTGAATCTATAAATTACTTTGGGCAGTATGGCCATTTTCACAATATTGTTGCTTTCTATCCATGACCATGGAATGTTTTTCCACTTGTTTGTGTCCTCTCTCATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAACTTGTATTCCTAGGTATTTTATTATCTTTATAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTGTTATATTGGTGTATAGAAATGCTTTTGAAAAATAAGCCTGTATAGCCAAGACAATCCTAAGCAAAAGGAACAAA...
Task1_train_42014
This sequence change occurs on Chromosome 12. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
TTTTGCATGACTCATCCTATCATTTTAGATTTATGACCAATTTTTTTAAGTTTAATATTTTATAGCCCTATACCTTTTGGGGCAATATTAATAACAAGTACTTTACATTTATATAGTATCTTAATATTTGTAAAGAGTTTTATTCCAACCTAATAATACAACAACATTTTTCATATGTGAGATCAGGTTAATCACACTGATCTCACATATGAAAAAGCCAGACCTCTGAAAATTTGATCTCACAGCTCTTACGGGACAGAACTAGGATCAAGCCTAAGTTCAACTCTAAATCTTGCATTCTTCTTAATATACTAAAACTC...
TTTTGCATGACTCATCCTATCATTTTAGATTTATGACCAATTTTTTTAAGTTTAATATTTTATAGCCCTATACCTTTTGGGGCAATATTAATAACAAGTACTTTACATTTATATAGTATCTTAATATTTGTAAAGAGTTTTATTCCAACCTAATAATACAACAACATTTTTCATATGTGAGATCAGGTTAATCACACTGATCTCACATATGAAAAAGCCAGACCTCTGAAAATTTGATCTCACAGCTCTTACGGGACAGAACTAGGATCAAGCCTAAGTTCAACTCTAAATCTTGCATTCTTCTTAATATACTAAAACTC...
Task1_train_42015
Consider a variant on Chromosome 12. Determine its clinical classification and disease relevance.
Benign
AACGATTTTTACCATCACTTTTAAAGTATATCACCGTCATGTTACTAGAACTGAATATTGAAGTGATGGTCAACATTCCACAAAGTTTAGCTGAAAAAATTTTAGGAAAGTTTGATTTATAGTTATATTTTTAAAAAATCAGAACACACAGTAAAATAATCACCCAATTTTCTAATCAACTACTTTAGTTTTCTCCAACTTTGATTTGTATGCACCCTTACATCTCATGTGAGAATTAAATGTTAGTTTCACAATAACAATGCGCTGTAATTTTAATTGCACAGAAAAAGCTCTAAAATAAGGACATTTGATTTCCAGTA...
AACGATTTTTACCATCACTTTTAAAGTATATCACCGTCATGTTACTAGAACTGAATATTGAAGTGATGGTCAACATTCCACAAAGTTTAGCTGAAAAAATTTTAGGAAAGTTTGATTTATAGTTATATTTTTAAAAAATCAGAACACACAGTAAAATAATCACCCAATTTTCTAATCAACTACTTTAGTTTTCTCCAACTTTGATTTGTATGCACCCTTACATCTCATGTGAGAATTAAATGTTAGTTTCACAATAACAATGCGCTGTAATTTTAATTGCACAGAAAAAGCTCTAAAATAAGGACATTTGATTTCCAGTA...
Task1_train_42016
Given this variant on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
CATTCTTGCTTTGTTCTAAAGCTTAGTTCTGATAATATCGCAACATAGCAGAGTAACTACCCTTGAGTTAGGATGAGATGAGGAAGAAAGAATTCACCTACCTGTGAACAGGTTTTGAGTGATAAAATCCATCAACTCAGACACTTTGGAGAAAATGCCAAGTGATGCCTTCACATGGTTGTTTCTTACGGGAACTGAACCTCCAGCACAACCAGCTACCCAGGAAGTTATCCCAGCAAGAATCCAGATTCCACCACCTCTTCTACAAACCAGTGGTCCTCCAGAGTCCCCCTTTCATGGTACAAAAAAAGAGAAAATTT...
CATTCTTGCTTTGTTCTAAAGCTTAGTTCTGATAATATCGCAACATAGCAGAGTAACTACCCTTGAGTTAGGATGAGATGAGGAAGAAAGAATTCACCTACCTGTGAACAGGTTTTGAGTGATAAAATCCATCAACTCAGACACTTTGGAGAAAATGCCAAGTGATGCCTTCACATGGTTGTTTCTTACGGGAACTGAACCTCCAGCACAACCAGCTACCCAGGAAGTTATCCCAGCAAGAATCCAGATTCCACCACCTCTTCTACAAACCAGTGGTCCTCCAGAGTCCCCCTTTCATGGTACAAAAAAAGAGAAAATTT...
Task1_train_42017
A mutation is present on Chromosome 12. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TGGTAATGTGTCTTTTTCCTTCTAGATTCTTTTGGGATCCATTCTTTTAGTGTGCTACATTTTCAGCACATGTCTAGATATATAATTATTTTTTGTATCATAGTTGGAGTTACTAAGCTTTTTAAATCTAAAGATTTGGATATCAATTATGATCAATCCTCAGCCACTTTCTCTTGAATTACAGTCTCTCTCTACCAATATCCATACTCTTTCTAAACTTCAAATTGGATGTTTACTACACTCTATCTTCTCTGTCTCTTATCGTCACTGTCTTCTCCGGGTAATTATTTCAGATTGTCTAGTTCCATACACCTAATCTA...
TGGTAATGTGTCTTTTTCCTTCTAGATTCTTTTGGGATCCATTCTTTTAGTGTGCTACATTTTCAGCACATGTCTAGATATATAATTATTTTTTGTATCATAGTTGGAGTTACTAAGCTTTTTAAATCTAAAGATTTGGATATCAATTATGATCAATCCTCAGCCACTTTCTCTTGAATTACAGTCTCTCTCTACCAATATCCATACTCTTTCTAAACTTCAAATTGGATGTTTACTACACTCTATCTTCTCTGTCTCTTATCGTCACTGTCTTCTCCGGGTAATTATTTCAGATTGTCTAGTTCCATACACCTAATCTA...
Task1_train_42018
This mutation occurs on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
Benign
GGAAGACCCCATATCTACAAAAAAAATTTTAAAATATATCTGGATGCACGGCATGTGCCAGTAGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTATGCCCAGAAGTTTCAGGCTACAGTGAGCAATAATCATGCCACTGCACTCCAGGCTGGAGGACAGAGTGAGATCCCATCCCAAAAAAGAAAAAAAGAGAAAAGACAGAGAAAAAAGAAGAAAACCTTCTAGAAAGTCAAGAAGTGAAAACACCCTTCCCTACTCTCCAGCAAGTAGGCACAGGCATTTGACTCTGCCCTTTTTAATTGAAAAATA...
GGAAGACCCCATATCTACAAAAAAAATTTTAAAATATATCTGGATGCACGGCATGTGCCAGTAGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTATGCCCAGAAGTTTCAGGCTACAGTGAGCAATAATCATGCCACTGCACTCCAGGCTGGAGGACAGAGTGAGATCCCATCCCAAAAAAGAAAAAAAGAGAAAAGACAGAGAAAAAAGAAGAAAACCTTCTAGAAAGTCAAGAAGTGAAAACACCCTTCCCTACTCTCCAGCAAGTAGGCACAGGCATTTGACTCTGCCCTTTTTAATTGAAAAATA...
Task1_train_42019
Here is a variant on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GATTTTTTTTTAAAAGGAAGCAATCACTGGTAACAAAAATATTTACTACCTTCTAGTGAGTTTTCATTACTCTAAGCTAGTACACAAAGCTATGTACTTCATGTCCAGTCATTTGTATTTGGTCATTTGGCCAAAGTCTATTTAGCAAGCCAAAAGAACTCTCTTTCCACAGACCACTTCCAGATCAATAGACAACGTTTCAATAGACTATAAAACCATTCATATATTCTTAGGCTGATCTGGTAGATAAGCCTTGATATTAACAATGCATGAATTTAAGATTCTTAAATAGAACAGGTACTACCACACAGAATAGAAAA...
GATTTTTTTTTAAAAGGAAGCAATCACTGGTAACAAAAATATTTACTACCTTCTAGTGAGTTTTCATTACTCTAAGCTAGTACACAAAGCTATGTACTTCATGTCCAGTCATTTGTATTTGGTCATTTGGCCAAAGTCTATTTAGCAAGCCAAAAGAACTCTCTTTCCACAGACCACTTCCAGATCAATAGACAACGTTTCAATAGACTATAAAACCATTCATATATTCTTAGGCTGATCTGGTAGATAAGCCTTGATATTAACAATGCATGAATTTAAGATTCTTAAATAGAACAGGTACTACCACACAGAATAGAAAA...
Task1_train_42020
Given this context: Chromosome 12 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TGGGTAAAGTACTATGTTAAGACTGTAGAAGGAAGAAAAAGCAAAACAGATGTGTAATTACTTAACCCTTAACGCAACATGCCTGTGAGACAAAAGTCATCTTCTTTTAGAGTGAAGGCCACAGGGATGAGGGATGGGTGAGAAAGGGACCTTTCTTGGTGCCCCATAGAACAGATAGAGACTCCAGGTCCTTGCTCTCTCACTCCGTCTTCTGGCACAGTCTCCCTCAGGCTTATGGACAGGAATAGGACGTTGATTTGTTCTGTGCAACCCCTGTCACGTCTTCCCACTTGGGCCTTGGGTCTGGTTGCAGCCTCAGA...
TGGGTAAAGTACTATGTTAAGACTGTAGAAGGAAGAAAAAGCAAAACAGATGTGTAATTACTTAACCCTTAACGCAACATGCCTGTGAGACAAAAGTCATCTTCTTTTAGAGTGAAGGCCACAGGGATGAGGGATGGGTGAGAAAGGGACCTTTCTTGGTGCCCCATAGAACAGATAGAGACTCCAGGTCCTTGCTCTCTCACTCCGTCTTCTGGCACAGTCTCCCTCAGGCTTATGGACAGGAATAGGACGTTGATTTGTTCTGTGCAACCCCTGTCACGTCTTCCCACTTGGGCCTTGGGTCTGGTTGCAGCCTCAGA...
Task1_train_42021
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GGGGCGTTTTGGTAGACAGATCTAGGAAATGTTTTCAGAATGAATCCATACTGGTATTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACACAGTCTCGCTCTGTCTCCCAGGCTGGAGCGCAGTGACCTGATCACGGCTCTCTGCAACCTCTGCCTCCGGGGTTCAAGCGATTCTCATGCCTCAACCTCCTGAGTAGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAAATCAGGTGATCCGCCAGCCTTGG...
GGGGCGTTTTGGTAGACAGATCTAGGAAATGTTTTCAGAATGAATCCATACTGGTATTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACACAGTCTCGCTCTGTCTCCCAGGCTGGAGCGCAGTGACCTGATCACGGCTCTCTGCAACCTCTGCCTCCGGGGTTCAAGCGATTCTCATGCCTCAACCTCCTGAGTAGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAAATCAGGTGATCCGCCAGCCTTGG...
Task1_train_42022
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
GACCCTGGACAGAAGAAGGGAGGACTCAGTGCCAGGGCAATAGGGAGGCCCCCTAGGGACGCTAGTGCTGTGACATGTGTCAGAAAGGCGCAGTCAGCAGCAGCGGCTGGGTGTGTTTGGTGGGAGGTGGCACCTACCACCCCGTGGTTCCCACCCAGGGGAGCCAAGTCCTCTTCCTTGGCTGTAGTCCTGCCGAGGGTCTCTCCTCAGTTTTGAGTCTCAAGGTGAAGACGCGGTTTGTGGGTGGCTGAGGGGTTGCTCCATGGGGGCTCCCTCCCTCCCTCCTTTCCTTCCTTAGATGGACGAGGTGGGTCGCATTC...
GACCCTGGACAGAAGAAGGGAGGACTCAGTGCCAGGGCAATAGGGAGGCCCCCTAGGGACGCTAGTGCTGTGACATGTGTCAGAAAGGCGCAGTCAGCAGCAGCGGCTGGGTGTGTTTGGTGGGAGGTGGCACCTACCACCCCGTGGTTCCCACCCAGGGGAGCCAAGTCCTCTTCCTTGGCTGTAGTCCTGCCGAGGGTCTCTCCTCAGTTTTGAGTCTCAAGGTGAAGACGCGGTTTGTGGGTGGCTGAGGGGTTGCTCCATGGGGGCTCCCTCCCTCCCTCCTTTCCTTCCTTAGATGGACGAGGTGGGTCGCATTC...
Task1_train_42023
A sequence alteration has been identified on Chromosome 12. Is it disease-inducing or harmless?
Benign
TGCCAGGGCAATAGGGAGGCCCCCTAGGGACGCTAGTGCTGTGACATGTGTCAGAAAGGCGCAGTCAGCAGCAGCGGCTGGGTGTGTTTGGTGGGAGGTGGCACCTACCACCCCGTGGTTCCCACCCAGGGGAGCCAAGTCCTCTTCCTTGGCTGTAGTCCTGCCGAGGGTCTCTCCTCAGTTTTGAGTCTCAAGGTGAAGACGCGGTTTGTGGGTGGCTGAGGGGTTGCTCCATGGGGGCTCCCTCCCTCCCTCCTTTCCTTCCTTAGATGGACGAGGTGGGTCGCATTCTCTGTAACCTGTGCGGTGTGGTTCCTGGA...
TGCCAGGGCAATAGGGAGGCCCCCTAGGGACGCTAGTGCTGTGACATGTGTCAGAAAGGCGCAGTCAGCAGCAGCGGCTGGGTGTGTTTGGTGGGAGGTGGCACCTACCACCCCGTGGTTCCCACCCAGGGGAGCCAAGTCCTCTTCCTTGGCTGTAGTCCTGCCGAGGGTCTCTCCTCAGTTTTGAGTCTCAAGGTGAAGACGCGGTTTGTGGGTGGCTGAGGGGTTGCTCCATGGGGGCTCCCTCCCTCCCTCCTTTCCTTCCTTAGATGGACGAGGTGGGTCGCATTCTCTGTAACCTGTGCGGTGTGGTTCCTGGA...
Task1_train_42024
A variant on Chromosome 12 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
CAGGTCCATGCCCACTGGGAGAAGGGTGGCCTGCTGGGCCGTCTGGCTGCCAGGAAGAAGGTGAGTGGCCTGTCGGCAGCCTTCCCACTTGTGAGGACAGTGCCACTGAGTCCTCCTGGGAGCTCTCGTGCTCATCGGGTCAGGACAGGCTTCTGGCTCCTCATCCCCACCGCTCCCAGTCCCTGACTACAGAGGATTTCCCCCAAAGTCCCTGGCTGTGAGGTTCTCCAGTCCCCTGGCCAGAAAACACAAGGCCACGAGCAGACTCGAGACCTGGCACCCTGAACCTGTCTCTGGGAAATGTCCTCTGTCTTTCTCAG...
CAGGTCCATGCCCACTGGGAGAAGGGTGGCCTGCTGGGCCGTCTGGCTGCCAGGAAGAAGGTGAGTGGCCTGTCGGCAGCCTTCCCACTTGTGAGGACAGTGCCACTGAGTCCTCCTGGGAGCTCTCGTGCTCATCGGGTCAGGACAGGCTTCTGGCTCCTCATCCCCACCGCTCCCAGTCCCTGACTACAGAGGATTTCCCCCAAAGTCCCTGGCTGTGAGGTTCTCCAGTCCCCTGGCCAGAAAACACAAGGCCACGAGCAGACTCGAGACCTGGCACCCTGAACCTGTCTCTGGGAAATGTCCTCTGTCTTTCTCAG...
Task1_train_42025
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GTATGGAAAATGGTTAAGACTAACGAAAAAGGAACCTAAGGGCATACACTTAAAGAAGTGAAGTCTTGTTAATATTAAAGAAGTTTTCTCAAACGTAAGTGCATCAGGATGCTTTTGTAGTTCATAAATGTAATAATTGGCTTTTCATGCTCATGTGTGAGATGTACCTTCCTCAAACTTTGTTACCATGTTAGAACATTACCTGTCTGATGTGGGGAAAAACAAAGAACACCAGAACGTAACTGTTCAACATACAATATCATCCTCCAACAGAAAAAATATCTGATGAAGTAAAAAAATTATCTTTTGTTTTTTTGAGA...
GTATGGAAAATGGTTAAGACTAACGAAAAAGGAACCTAAGGGCATACACTTAAAGAAGTGAAGTCTTGTTAATATTAAAGAAGTTTTCTCAAACGTAAGTGCATCAGGATGCTTTTGTAGTTCATAAATGTAATAATTGGCTTTTCATGCTCATGTGTGAGATGTACCTTCCTCAAACTTTGTTACCATGTTAGAACATTACCTGTCTGATGTGGGGAAAAACAAAGAACACCAGAACGTAACTGTTCAACATACAATATCATCCTCCAACAGAAAAAATATCTGATGAAGTAAAAAAATTATCTTTTGTTTTTTTGAGA...
Task1_train_42026
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
AACCAAACAAAACAACTCAAAAATAGCAATGGCTATCACTGTGTCTCAGTTCACCTTTAATCATTTCTGTATCTTTTTTATTTTTTTCCCATTCTTACGTATATACCCAATTCATTTCTATATCTATCATGCCTGCTACCTCCTTACTTTGGGGCCCCCTGAATTATATAATCATAGAGTTTATGAACATCTCAAATATTATTCAGGCTTCTAAGAAGAGCCCTTCCTAAATAATCTGAAAACTATGACCTACTTTATTTCTAAGACCCTCTCAAGGTTGACTATCTCTCTATCTTCTATCTATCTATCTATCTATCTAT...
AACCAAACAAAACAACTCAAAAATAGCAATGGCTATCACTGTGTCTCAGTTCACCTTTAATCATTTCTGTATCTTTTTTATTTTTTTCCCATTCTTACGTATATACCCAATTCATTTCTATATCTATCATGCCTGCTACCTCCTTACTTTGGGGCCCCCTGAATTATATAATCATAGAGTTTATGAACATCTCAAATATTATTCAGGCTTCTAAGAAGAGCCCTTCCTAAATAATCTGAAAACTATGACCTACTTTATTTCTAAGACCCTCTCAAGGTTGACTATCTCTCTATCTTCTATCTATCTATCTATCTATCTAT...
Task1_train_42027
Here’s a variant located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
Benign
CAGAAACATACTGTTTTTCTTTTTATCAAGACTGACCCCAAAGTTATCCAATCAGAATTGTTGACTAATATATAACAATCTGAGCTATCTCCTGACTTTGTGATTTTTTTTTTTTTTAGACAGTCTTGCTCTTGACACCCAGGCTGGAGTGCAATGGTGCGATTTCGGCTCACTGCAACCTCCACTTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTTGACAGTAGCTGGGATTACAGGCGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAATAGAGACGGGATTTCACCATGTTATAGTTCAAATACTTTTT...
CAGAAACATACTGTTTTTCTTTTTATCAAGACTGACCCCAAAGTTATCCAATCAGAATTGTTGACTAATATATAACAATCTGAGCTATCTCCTGACTTTGTGATTTTTTTTTTTTTTAGACAGTCTTGCTCTTGACACCCAGGCTGGAGTGCAATGGTGCGATTTCGGCTCACTGCAACCTCCACTTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTTGACAGTAGCTGGGATTACAGGCGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAATAGAGACGGGATTTCACCATGTTATAGTTCAAATACTTTTT...
Task1_train_42028
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCCACAGTACTTCTGACACCAGATGTGTGGGAATTTTTTCCCAACTGACCAATTCTCTCCACATACCAACTGGGTGGCTTGTGATTTGATTCAGTTCTGACACTGTCTACCTGATGTTACCATCAGAACCCACAAGTTAAAGGGCTCAGTCCTACAAGACTGCCCCCACTTGAAGCTAGTCAC...
GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCCACAGTACTTCTGACACCAGATGTGTGGGAATTTTTTCCCAACTGACCAATTCTCTCCACATACCAACTGGGTGGCTTGTGATTTGATTCAGTTCTGACACTGTCTACCTGATGTTACCATCAGAACCCACAAGTTAAAGGGCTCAGTCCTACAAGACTGCCCCCACTTGAAGCTAGTCAC...
Task1_train_42029
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
CCTTCTGTTTTCTGAGTAGGTGGCTGGGACTACGGGCATGCACCACCATGACGGGGTAATTTTTTTTTTTTTTTAATTTTCAGTAGAGACAGGGTTTCACTATGTTTCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGAGATCTTCCTGCCTCAGCCTCACAGACTGCTGGGATTACAGGCATGAGCCACCACACCCAGCCAAGACTTTTTATAGAGTCCAATCTCCAGCTCCCCCCACCACTTTATGGAGGTCAGTGGTTAGAACTAAAAGTTCCAACCGTCTAATACTTGGTTTTCCTGGTGACCACCAGCTGTATCC...
CCTTCTGTTTTCTGAGTAGGTGGCTGGGACTACGGGCATGCACCACCATGACGGGGTAATTTTTTTTTTTTTTTAATTTTCAGTAGAGACAGGGTTTCACTATGTTTCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGAGATCTTCCTGCCTCAGCCTCACAGACTGCTGGGATTACAGGCATGAGCCACCACACCCAGCCAAGACTTTTTATAGAGTCCAATCTCCAGCTCCCCCCACCACTTTATGGAGGTCAGTGGTTAGAACTAAAAGTTCCAACCGTCTAATACTTGGTTTTCCTGGTGACCACCAGCTGTATCC...
Task1_train_42030
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
AGGCATGAGCCACCACACCCAGCCAAGACTTTTTATAGAGTCCAATCTCCAGCTCCCCCCACCACTTTATGGAGGTCAGTGGTTAGAACTAAAAGTTCCAACCGTCTAATACTTGGTTTTCCTGGTGACCACCAGCTGTATCCTGATGGTATCTAGGGGCCCCCACTTTAAGTCACCTTAGTAGCATAGACTCAGGTATGTGCATACAGAGTTCATTATGAATAACAAAAGATATTTATGAATTAGTGTTTGCTTATGCCAGAAATTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTCACTCTGTCAC...
AGGCATGAGCCACCACACCCAGCCAAGACTTTTTATAGAGTCCAATCTCCAGCTCCCCCCACCACTTTATGGAGGTCAGTGGTTAGAACTAAAAGTTCCAACCGTCTAATACTTGGTTTTCCTGGTGACCACCAGCTGTATCCTGATGGTATCTAGGGGCCCCCACTTTAAGTCACCTTAGTAGCATAGACTCAGGTATGTGCATACAGAGTTCATTATGAATAACAAAAGATATTTATGAATTAGTGTTTGCTTATGCCAGAAATTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTCACTCTGTCAC...
Task1_train_42031
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CTTGGTTTTCCTGGTGACCACCAGCTGTATCCTGATGGTATCTAGGGGCCCCCACTTTAAGTCACCTTAGTAGCATAGACTCAGGTATGTGCATACAGAGTTCATTATGAATAACAAAAGATATTTATGAATTAGTGTTTGCTTATGCCAGAAATTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTCACTCTGTCACCCAGACTAGAGTGCAGTGGTGTGATCTTGGCTTACTGTATCCTCCACCTCCCAGGTTCAAGTGATTCTTGTGCATCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACC...
CTTGGTTTTCCTGGTGACCACCAGCTGTATCCTGATGGTATCTAGGGGCCCCCACTTTAAGTCACCTTAGTAGCATAGACTCAGGTATGTGCATACAGAGTTCATTATGAATAACAAAAGATATTTATGAATTAGTGTTTGCTTATGCCAGAAATTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTCACTCTGTCACCCAGACTAGAGTGCAGTGGTGTGATCTTGGCTTACTGTATCCTCCACCTCCCAGGTTCAAGTGATTCTTGTGCATCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACC...
Task1_train_42032
Consider a variant on Chromosome 12. Determine its clinical classification and disease relevance.
Benign
CCACCAGCTGTATCCTGATGGTATCTAGGGGCCCCCACTTTAAGTCACCTTAGTAGCATAGACTCAGGTATGTGCATACAGAGTTCATTATGAATAACAAAAGATATTTATGAATTAGTGTTTGCTTATGCCAGAAATTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTCACTCTGTCACCCAGACTAGAGTGCAGTGGTGTGATCTTGGCTTACTGTATCCTCCACCTCCCAGGTTCAAGTGATTCTTGTGCATCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCCGCTAATT...
CCACCAGCTGTATCCTGATGGTATCTAGGGGCCCCCACTTTAAGTCACCTTAGTAGCATAGACTCAGGTATGTGCATACAGAGTTCATTATGAATAACAAAAGATATTTATGAATTAGTGTTTGCTTATGCCAGAAATTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTCACTCTGTCACCCAGACTAGAGTGCAGTGGTGTGATCTTGGCTTACTGTATCCTCCACCTCCCAGGTTCAAGTGATTCTTGTGCATCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCCGCTAATT...
Task1_train_42033
Consider this mutation on Chromosome 12. Is this a benign change or a disease-causing variant?
Benign
CACTTCAAAGACATCAGCTGTTGAGATGACCCAGGCAGTATTGAATACTCAGCTTTCATCAGAAAATGTTACCAAAGTTGAGCAAAATTCACCAGCAGTTTGTGAAACAATTTCTGTTCCCAAGTCCATGTCCACTGAGGAATATAAATCAAAAATTCAAAATGAAAATATGCTACTTCTCGCTTTGCTTTCACAGGCACGTAAGACTCAGAAGACAGTATTAAAAGATGCTAATCAAACTATTCAGGATTCTAAACCAGACAGTTGTGAAATGAATCCAAATACCCAAATGACTGGTAACCAACTGAATTTGAAGAACA...
CACTTCAAAGACATCAGCTGTTGAGATGACCCAGGCAGTATTGAATACTCAGCTTTCATCAGAAAATGTTACCAAAGTTGAGCAAAATTCACCAGCAGTTTGTGAAACAATTTCTGTTCCCAAGTCCATGTCCACTGAGGAATATAAATCAAAAATTCAAAATGAAAATATGCTACTTCTCGCTTTGCTTTCACAGGCACGTAAGACTCAGAAGACAGTATTAAAAGATGCTAATCAAACTATTCAGGATTCTAAACCAGACAGTTGTGAAATGAATCCAAATACCCAAATGACTGGTAACCAACTGAATTTGAAGAACA...
Task1_train_42034
A variant on Chromosome 12 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
TTTCATCAGAAAATGTTACCAAAGTTGAGCAAAATTCACCAGCAGTTTGTGAAACAATTTCTGTTCCCAAGTCCATGTCCACTGAGGAATATAAATCAAAAATTCAAAATGAAAATATGCTACTTCTCGCTTTGCTTTCACAGGCACGTAAGACTCAGAAGACAGTATTAAAAGATGCTAATCAAACTATTCAGGATTCTAAACCAGACAGTTGTGAAATGAATCCAAATACCCAAATGACTGGTAACCAACTGAATTTGAAGAACATGGAAACTCCAAGTACTTCTAATGTAAGTGGCAGGGTTTTGGACAACTCCTTT...
TTTCATCAGAAAATGTTACCAAAGTTGAGCAAAATTCACCAGCAGTTTGTGAAACAATTTCTGTTCCCAAGTCCATGTCCACTGAGGAATATAAATCAAAAATTCAAAATGAAAATATGCTACTTCTCGCTTTGCTTTCACAGGCACGTAAGACTCAGAAGACAGTATTAAAAGATGCTAATCAAACTATTCAGGATTCTAAACCAGACAGTTGTGAAATGAATCCAAATACCCAAATGACTGGTAACCAACTGAATTTGAAGAACATGGAAACTCCAAGTACTTCTAATGTAAGTGGCAGGGTTTTGGACAACTCCTTT...
Task1_train_42035
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGAGATCCGCCCACCTCGGCCTCCAAAAGTCCTGAGATACGGGTATGAGCCACCATGCCCGACCAAATCCTACCAATTGTGTATCTTGTATGATGCAAACTTGGTGCAAAATTCACGAATAATTACTATGGCTTTACTTGCAGATTTAGTAAATAATTTACATTTGGCTGATACATGTAAAAGTGTTAAAAACAAACAAAAAAAGATCTCTTGAGCTTTATAGGAGTCCCCCAGAAACTGAGATCACACCACTGTACTCCAGCCTGGGTGACAGAGCGAGAC...
GCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGAGATCCGCCCACCTCGGCCTCCAAAAGTCCTGAGATACGGGTATGAGCCACCATGCCCGACCAAATCCTACCAATTGTGTATCTTGTATGATGCAAACTTGGTGCAAAATTCACGAATAATTACTATGGCTTTACTTGCAGATTTAGTAAATAATTTACATTTGGCTGATACATGTAAAAGTGTTAAAAACAAACAAAAAAAGATCTCTTGAGCTTTATAGGAGTCCCCCAGAAACTGAGATCACACCACTGTACTCCAGCCTGGGTGACAGAGCGAGAC...
Task1_train_42036
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
AGGGCTAGTTCCTTCTCTTTGGGAGTACGTTTATTTGGGTAGCAGCCAGGGAGACTGAAACAGTTGAACTGCCCTTCACAAAGGCTGAGAAAGATCGAATTACCATTACACTTCAGGGGGCTGGAGATGGTACCTGGGTGAATGACCATGTGAAGAAAGGCGGGGTGGCTTCCAAGATGGAAGTGATGGCTGGGGAACTTGGCTTGAGCTGGGATACTTGTAATGGTGGCTTTTTGCCTCCTATCTGTGTGATTTTTGGGACACAGCCTCTTTGTTATTAGAATAGTGAATTTTCAAATGCAGATAAGCAAGTCAATTTA...
AGGGCTAGTTCCTTCTCTTTGGGAGTACGTTTATTTGGGTAGCAGCCAGGGAGACTGAAACAGTTGAACTGCCCTTCACAAAGGCTGAGAAAGATCGAATTACCATTACACTTCAGGGGGCTGGAGATGGTACCTGGGTGAATGACCATGTGAAGAAAGGCGGGGTGGCTTCCAAGATGGAAGTGATGGCTGGGGAACTTGGCTTGAGCTGGGATACTTGTAATGGTGGCTTTTTGCCTCCTATCTGTGTGATTTTTGGGACACAGCCTCTTTGTTATTAGAATAGTGAATTTTCAAATGCAGATAAGCAAGTCAATTTA...
Task1_train_42037
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
ATATAATAAAAACTACCATTTAGTTAAATGGTTTTGTTCCTTTTTTCAGTATTTTTTTTCTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAATCTCTGCCTCCCCGGTCCAAGCAATTCTTATGTCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGTGCCACCACACCTGGCTAATTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTAGTAGAGGCAGGGTTTCACTGTGTTGGCCAGGCTTGTCTCAAACTCCTGGCCTCAAGTGATCTAC...
ATATAATAAAAACTACCATTTAGTTAAATGGTTTTGTTCCTTTTTTCAGTATTTTTTTTCTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAATCTCTGCCTCCCCGGTCCAAGCAATTCTTATGTCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGTGCCACCACACCTGGCTAATTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTAGTAGAGGCAGGGTTTCACTGTGTTGGCCAGGCTTGTCTCAAACTCCTGGCCTCAAGTGATCTAC...
Task1_train_42038
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
ATTAATTGTGCTTCATTTGTGTCAGAATTAGAAATAATGGTCACATAACTTTTTTATTAATTTTAAAAATTTAATTTTTATTTTTTAGACTAGTCAAGTGCAGTAGTAAGGCGGGAAAGAGTAGAACAAGGAGTTCCATCTGTAACTGACTGAACAGTCAATTGAGATAACTACCTTCAGACAAGCCAGATATAACTAATTATATTGGAAAGGTTGTTTCCTAAAAATGTTAAAAATAAGTTATGGCAAGCAATATGCTTTGTTTCTATGACTTAAAAATATTATATACATCCCTCTAATTCTAGTTGTATTTTGCACTG...
ATTAATTGTGCTTCATTTGTGTCAGAATTAGAAATAATGGTCACATAACTTTTTTATTAATTTTAAAAATTTAATTTTTATTTTTTAGACTAGTCAAGTGCAGTAGTAAGGCGGGAAAGAGTAGAACAAGGAGTTCCATCTGTAACTGACTGAACAGTCAATTGAGATAACTACCTTCAGACAAGCCAGATATAACTAATTATATTGGAAAGGTTGTTTCCTAAAAATGTTAAAAATAAGTTATGGCAAGCAATATGCTTTGTTTCTATGACTTAAAAATATTATATACATCCCTCTAATTCTAGTTGTATTTTGCACTG...
Task1_train_42039
Consider this mutation on Chromosome 12. Is this a benign change or a disease-causing variant?
Benign
AATGGGAGTGAGATTCTGTTTCAAAAAATACAAAAAAGAACTGATATTATTTTTGTACTATGAATATGGTCTAACTCTCCATTTATGTAGGTCTTTATTTTGCTCAATAGCATCTTTTAATATTTTGCAGGAAAGTCATATACCTTTTAAGTCTTAAAGAATTATTCCTAGATTACTTTGATGTTACAGAGCATCAAAATATTTTTTTCACTTTTTGTTGCAGGTATATTTGTTTCTCATTAATTCATATTCTTCCAAGAGTTTAAGGCAATTTGATTTAAGGAGAAATCATTTCTTAAGAGGATCTTTAAAGTCATATT...
AATGGGAGTGAGATTCTGTTTCAAAAAATACAAAAAAGAACTGATATTATTTTTGTACTATGAATATGGTCTAACTCTCCATTTATGTAGGTCTTTATTTTGCTCAATAGCATCTTTTAATATTTTGCAGGAAAGTCATATACCTTTTAAGTCTTAAAGAATTATTCCTAGATTACTTTGATGTTACAGAGCATCAAAATATTTTTTTCACTTTTTGTTGCAGGTATATTTGTTTCTCATTAATTCATATTCTTCCAAGAGTTTAAGGCAATTTGATTTAAGGAGAAATCATTTCTTAAGAGGATCTTTAAAGTCATATT...
Task1_train_42040
This is a variant located on Chromosome 12. Is this mutation a likely cause of disease or not?
Benign
AAATAATTCAAACCAAAAAAATCTTATATTCTATATGATTCCATTTATATAAAATTCGAGAAAATTCAATCTATAGTGACAGAAACCAGATCATGGCTGAGCATGGTGGCTCACGCCTGTAACCCCAGAACTTTGAGAGGCCGAGGAAGGAGGACTGCTTGAGCCAGGTGTTCCAGACCAGCCTGGGTAACATAGTGAGACCCCCATCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTTGTGTGCGCCTATGGTCCCAGCTACCCAGGAGGCTGGGGTGGGAGGATTGCTTGAGCCCAGAAAGTTGAGGCTGCAGT...
AAATAATTCAAACCAAAAAAATCTTATATTCTATATGATTCCATTTATATAAAATTCGAGAAAATTCAATCTATAGTGACAGAAACCAGATCATGGCTGAGCATGGTGGCTCACGCCTGTAACCCCAGAACTTTGAGAGGCCGAGGAAGGAGGACTGCTTGAGCCAGGTGTTCCAGACCAGCCTGGGTAACATAGTGAGACCCCCATCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTTGTGTGCGCCTATGGTCCCAGCTACCCAGGAGGCTGGGGTGGGAGGATTGCTTGAGCCCAGAAAGTTGAGGCTGCAGT...
Task1_train_42041
This sequence change occurs on Chromosome 12. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CTAAAATTACGTTCTACCAGAGGGGCCAAGGCAAGAGTCACCAATGGGATGGAATGAAGGGGTAGGAGTAGAAAGAGGGCTGGGTTGCACCTGCCCACAGGTTAGGTAAAATTAAAACAGGTAGATTCTGCTGAGGAAGAATTGATGAAGAGACATACGGGCTAAAACAAGCAAACAGAACAAGCCTCTTGGATGGGGACATGTGGTGTTCTCAAGAGCCTTTGATGGGAGTGGGAGAGAATAGGAAAGAACAAAGTATTAGAGGAGTATAATTATTTAATTTTAAAGGTTTAGTAGAGGAATAAAGTTAAAATACAATT...
CTAAAATTACGTTCTACCAGAGGGGCCAAGGCAAGAGTCACCAATGGGATGGAATGAAGGGGTAGGAGTAGAAAGAGGGCTGGGTTGCACCTGCCCACAGGTTAGGTAAAATTAAAACAGGTAGATTCTGCTGAGGAAGAATTGATGAAGAGACATACGGGCTAAAACAAGCAAACAGAACAAGCCTCTTGGATGGGGACATGTGGTGTTCTCAAGAGCCTTTGATGGGAGTGGGAGAGAATAGGAAAGAACAAAGTATTAGAGGAGTATAATTATTTAATTTTAAAGGTTTAGTAGAGGAATAAAGTTAAAATACAATT...
Task1_train_42042
This mutation occurs on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
Benign
TATTGCATCTAGTGCATATATCTTAAGTTTCTTTCAATCTATTACTGTACTTTTTCTCTTCTACTTTATAATAACTTGTTATATAGACATTGAGCTGGTTGCTTTAAGAAAATAATAATGAAGACCCAGTTACTTTAATAAAATATCATTTGACTTGTTTCTTGAGTTACTGCTAGTTTTAGAGGAAATAATGTGAAATTCTTTAAGAAGGGATATAGGCAAATTGGGAAGTATATAGAGGAGAGTGATTAGGGAGATAAAAGCACATCAAAAAGAGCAATAAGAGGAACTGAGATTGTTTTATTTGAAGAAGAGATGAC...
TATTGCATCTAGTGCATATATCTTAAGTTTCTTTCAATCTATTACTGTACTTTTTCTCTTCTACTTTATAATAACTTGTTATATAGACATTGAGCTGGTTGCTTTAAGAAAATAATAATGAAGACCCAGTTACTTTAATAAAATATCATTTGACTTGTTTCTTGAGTTACTGCTAGTTTTAGAGGAAATAATGTGAAATTCTTTAAGAAGGGATATAGGCAAATTGGGAAGTATATAGAGGAGAGTGATTAGGGAGATAAAAGCACATCAAAAAGAGCAATAAGAGGAACTGAGATTGTTTTATTTGAAGAAGAGATGAC...
Task1_train_42043
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GCTTCCTCGTGGCACGGTGATCACAGAATAATTAGACATCTTTCATGGTGGCTGGTTACCAAGAGAAATGAAGCAGATTTTTTCTGTCCTCTTAAAGGCTAGGCCAAGGACTGGCAAAAATATTAATTCTGCTACATTCTAGTAACCAGAGCAACCACAAACCTAGCTCAGATTAAAGGGGAAGGAAAAGAGACTCTATATGAATAGCACCTATGTATAGGGATGGAAATGATGTGTCCATCTTTGGAAACTTCCACTATAAATAGTGGTAGCACGCTATAGATCCACTAGGAAAATCAAGCACAAACTCTTTAAAAAAT...
GCTTCCTCGTGGCACGGTGATCACAGAATAATTAGACATCTTTCATGGTGGCTGGTTACCAAGAGAAATGAAGCAGATTTTTTCTGTCCTCTTAAAGGCTAGGCCAAGGACTGGCAAAAATATTAATTCTGCTACATTCTAGTAACCAGAGCAACCACAAACCTAGCTCAGATTAAAGGGGAAGGAAAAGAGACTCTATATGAATAGCACCTATGTATAGGGATGGAAATGATGTGTCCATCTTTGGAAACTTCCACTATAAATAGTGGTAGCACGCTATAGATCCACTAGGAAAATCAAGCACAAACTCTTTAAAAAAT...
Task1_train_42044
Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CGTAATTTTTCTTTATGTTTAAAAGGGGAAAATGGCAAATATTTTACTTTCTGTTTATGTTTGGATGATGTGGATTTTTGTTTTCTATAATTTGACTGGCTTAACTGCAAAGATATCCCTTGCTTTAAAATTTGAAGACACTGCAACTAAATTTTATTTCAGCATTTTATATTTTATAACTCTAGGTATAAAAGGCTAACACTTAATTTTCTGAGCATTCATGAAACAAAGTTTTGCAAGAACATTCAAAAGTTACAGATATAATATTTCCTTCAGAAATTTAGATATAGTACAAAATTCTACAAAGAGCCACATAGAAT...
CGTAATTTTTCTTTATGTTTAAAAGGGGAAAATGGCAAATATTTTACTTTCTGTTTATGTTTGGATGATGTGGATTTTTGTTTTCTATAATTTGACTGGCTTAACTGCAAAGATATCCCTTGCTTTAAAATTTGAAGACACTGCAACTAAATTTTATTTCAGCATTTTATATTTTATAACTCTAGGTATAAAAGGCTAACACTTAATTTTCTGAGCATTCATGAAACAAAGTTTTGCAAGAACATTCAAAAGTTACAGATATAATATTTCCTTCAGAAATTTAGATATAGTACAAAATTCTACAAAGAGCCACATAGAAT...
Task1_train_42045
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TCCAAAGAGAATGCTAAATTCTGTCTTTAGAGAATTCTGGCAAAGAGGTTTACAATAATTATTGCCCTGGTAATATTTATTTTGTATGCTATCTTTATATGTAGTATCTTTATTGTTATTATAATATATTTCATTGTATAAATTAATAATTTAAAGTTCTTCCTGGACCCAAATATAGTGTAAGATCTCTCTATTCACATTTCTGTAATCTAACCACCATTCATTTCCTACATTAGGATTCTCTCTTTAAATTACACCCTTAATTTGCTAAACAATATTATAAAGCAGAGTTTCTAAAAAGTTTATGGCCTGCAATTTTT...
TCCAAAGAGAATGCTAAATTCTGTCTTTAGAGAATTCTGGCAAAGAGGTTTACAATAATTATTGCCCTGGTAATATTTATTTTGTATGCTATCTTTATATGTAGTATCTTTATTGTTATTATAATATATTTCATTGTATAAATTAATAATTTAAAGTTCTTCCTGGACCCAAATATAGTGTAAGATCTCTCTATTCACATTTCTGTAATCTAACCACCATTCATTTCCTACATTAGGATTCTCTCTTTAAATTACACCCTTAATTTGCTAAACAATATTATAAAGCAGAGTTTCTAAAAAGTTTATGGCCTGCAATTTTT...
Task1_train_42046
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
AGGTGACTTATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAACACAAAAAATTAGCTGGGCGTGGTGGTGGGCAACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTAGAACTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCTGTCTCAAAAATAATAATAATTAAAAAAATTGTACATTTGTTCGACAGTAGCTTT...
AGGTGACTTATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAACACAAAAAATTAGCTGGGCGTGGTGGTGGGCAACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTAGAACTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCTGTCTCAAAAATAATAATAATTAAAAAAATTGTACATTTGTTCGACAGTAGCTTT...
Task1_train_42047
A mutation is present on Chromosome 12. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GATAAGCTGAAGTACAATAAATTTTGAAGTCATTACATAGCAATCCAAGATGCCAAGTTTCCAGAAGTATTCTCTTAGGAGTCACTTTACCAGCTATAATACTTCAAAAACCTCCATTTCAATGAACATCGTTATACAACAATCCAAAATGCCAAGAATCCAACAGTATTCATTTAGGAGTCATGTTACCAACCATAATACTTCAAAAACCTCTATTTCAAACAGCATCCAAGCACTTTCCTTGTCAAAGCTACAGGATATAATGCAAAACAAAAACAAAAAACTTCTGTATTTATCCTTTAAACGATTCCTTATTGCCC...
GATAAGCTGAAGTACAATAAATTTTGAAGTCATTACATAGCAATCCAAGATGCCAAGTTTCCAGAAGTATTCTCTTAGGAGTCACTTTACCAGCTATAATACTTCAAAAACCTCCATTTCAATGAACATCGTTATACAACAATCCAAAATGCCAAGAATCCAACAGTATTCATTTAGGAGTCATGTTACCAACCATAATACTTCAAAAACCTCTATTTCAAACAGCATCCAAGCACTTTCCTTGTCAAAGCTACAGGATATAATGCAAAACAAAAACAAAAAACTTCTGTATTTATCCTTTAAACGATTCCTTATTGCCC...
Task1_train_42048
Consider a variant on Chromosome 12. Determine its clinical classification and disease relevance.
Benign
ACCAATGAGAGTATTTACACTAAAACAAAACAAAAGCTAAAAACAAAGTGGAACTCAAGTCATGTCAGAGTGGTGTCTTATTTATAGCATGACATTCCAACAATTTAACTACTTCTAATATATCCTCTTAGCAAACTGCAGAGGAGGGTTAGAGAGAATTTTAAAGCTAATGTGTATTTCCATCTCTACAATACCTGAGGGCTTCTGTATTCCACAGAATATGTTTTAGTCCCACATTGAGTGCAATAGGACTGTGCACTGTGTAGCAGTAACTCAAACTCAGAAAATTGTTTTCTATACTCTTGCCAGTTTTCAAATTA...
ACCAATGAGAGTATTTACACTAAAACAAAACAAAAGCTAAAAACAAAGTGGAACTCAAGTCATGTCAGAGTGGTGTCTTATTTATAGCATGACATTCCAACAATTTAACTACTTCTAATATATCCTCTTAGCAAACTGCAGAGGAGGGTTAGAGAGAATTTTAAAGCTAATGTGTATTTCCATCTCTACAATACCTGAGGGCTTCTGTATTCCACAGAATATGTTTTAGTCCCACATTGAGTGCAATAGGACTGTGCACTGTGTAGCAGTAACTCAAACTCAGAAAATTGTTTTCTATACTCTTGCCAGTTTTCAAATTA...
Task1_train_42049
Mutation context: Chromosome 12. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
CTTAGATATGCATTAGATTCTATTAATTTATTCTTGTGTTAGATATACCAACTTCAAAAGTGGTTCTGGAAAATAACCCCAAATAAGAAAAGTCTTGAATAAGTTTCTCTTTCTGCCTTTTCTAAATGTTTTGACAAGCAGGCTAGTAATTCATTTACTATTTTGAATATTTAAAAATGTTTTTGAAAGTTTCAAAGAAACTTTTTTGGGGTAGAAGAGTGGTTAGGAACTAAATTATTATACTCAGTTTACCTGTTCTTCTGAGTAACTTCATAATGCAATATAAATTTGTTTCTTATTTTCAAGGAATGCAAAAAATA...
CTTAGATATGCATTAGATTCTATTAATTTATTCTTGTGTTAGATATACCAACTTCAAAAGTGGTTCTGGAAAATAACCCCAAATAAGAAAAGTCTTGAATAAGTTTCTCTTTCTGCCTTTTCTAAATGTTTTGACAAGCAGGCTAGTAATTCATTTACTATTTTGAATATTTAAAAATGTTTTTGAAAGTTTCAAAGAAACTTTTTTGGGGTAGAAGAGTGGTTAGGAACTAAATTATTATACTCAGTTTACCTGTTCTTCTGAGTAACTTCATAATGCAATATAAATTTGTTTCTTATTTTCAAGGAATGCAAAAAATA...
Task1_train_42050
A variant on Chromosome 12 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
TTAGTTTCTGAAGAATTTAAGAATTTTGACTATTTTGTAATGGCTGAGGAGGCTATGATTTCTACAGTTTGGAGCAAATTCATTTTTTTCTTTTTTTTATTTTTATTTTTTTTGAGATGGGGTCTCACTTCAATTGCCCAGGCTGGAGTTCAGTGGCACAGTTTTGGCTCACTGCAGCTCCAACCTCCCTGGGCTCAAGTGATTCTCCCACCGCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCCACCATGCCCAGCTAATATTTTGTATTTTTAGTAGATACGGTATTTCACCATGTTGCCCAGGCTGGTCTTGA...
TTAGTTTCTGAAGAATTTAAGAATTTTGACTATTTTGTAATGGCTGAGGAGGCTATGATTTCTACAGTTTGGAGCAAATTCATTTTTTTCTTTTTTTTATTTTTATTTTTTTTGAGATGGGGTCTCACTTCAATTGCCCAGGCTGGAGTTCAGTGGCACAGTTTTGGCTCACTGCAGCTCCAACCTCCCTGGGCTCAAGTGATTCTCCCACCGCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCCACCATGCCCAGCTAATATTTTGTATTTTTAGTAGATACGGTATTTCACCATGTTGCCCAGGCTGGTCTTGA...
Task1_train_42051
This variant lies on Chromosome 12. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
GATCAGCGCACTACCACCTACGATGTGCAACTGTGTTCTTGAATCCATGTTGATTAGAGCATATTTATTTAGATGTGTAAATATTGGAGATTTGATTTTATTCCACATGATAATGCTGCTTTTAATTAAATGTAATCGTCTTCAATTTGAAAGTGCTCAAACTGGATCACTGGAATTCCATAAAGTTTAAATCAATACTGGGAAATGGAATCTGCACCAAAATCTTTGGGAATATCAGGGTCTATCTATTCTTCCACATCATTCTAATCTTGATAGTCTCTGTGGATCATGGCATAACAATCTTTCCATGCTATTCTTAC...
GATCAGCGCACTACCACCTACGATGTGCAACTGTGTTCTTGAATCCATGTTGATTAGAGCATATTTATTTAGATGTGTAAATATTGGAGATTTGATTTTATTCCACATGATAATGCTGCTTTTAATTAAATGTAATCGTCTTCAATTTGAAAGTGCTCAAACTGGATCACTGGAATTCCATAAAGTTTAAATCAATACTGGGAAATGGAATCTGCACCAAAATCTTTGGGAATATCAGGGTCTATCTATTCTTCCACATCATTCTAATCTTGATAGTCTCTGTGGATCATGGCATAACAATCTTTCCATGCTATTCTTAC...
Task1_train_42052
This mutation occurs on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
Benign
AAATATCTGGTGGATATCTGGTAAATAATTCAATAAGTGAATAGTAATTCCCAGTCTGGTAAAGGATGAAGTGGTTTTATTCTTATCAGTGAGGTAAAATAACAGGTCACATGGAAGGGAAACTTCTGGAAGGATTGGAGCTGTCAGGGGGTAGTGAACTCTTTTCTGCTCTACCCAAGTAGTGGAGTTTCACTCGAAACATGTACCCATACACACATAGACACACCACTGTGCAGATCCATGTCTCTACAGATCCAAGGTTTCCATCTTCATCTGGTTCCTTAGTGGTATTCTTGATATATTAGGATCTTCAGAACCAG...
AAATATCTGGTGGATATCTGGTAAATAATTCAATAAGTGAATAGTAATTCCCAGTCTGGTAAAGGATGAAGTGGTTTTATTCTTATCAGTGAGGTAAAATAACAGGTCACATGGAAGGGAAACTTCTGGAAGGATTGGAGCTGTCAGGGGGTAGTGAACTCTTTTCTGCTCTACCCAAGTAGTGGAGTTTCACTCGAAACATGTACCCATACACACATAGACACACCACTGTGCAGATCCATGTCTCTACAGATCCAAGGTTTCCATCTTCATCTGGTTCCTTAGTGGTATTCTTGATATATTAGGATCTTCAGAACCAG...
Task1_train_42053
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GCCTTCTGGGTGATACTGGATTTCCCTTTATGCTCACATCTGTTCTCTGAGTCTTCCCCATATTAGAAAATGTTACCATCACTGACTCAATTCACTCAGGTAAAAATATTGTAGTTATCCTTGATGGCTCTCTTTTTTTTTGTACCTCTCATATCTAAACAAGGCCTGTTACTGCTACTTCCAACACATATCTTGACCCTATCCACTATTCTCAGTCTCCTTTATCACAGTTTCAGCACAAGCCACTCATAAATTGTCAGAACTTCTGAAATCACCTCATAATTGTTCTTCCTAATTCTATGATGCACCCCCTGCCATAT...
GCCTTCTGGGTGATACTGGATTTCCCTTTATGCTCACATCTGTTCTCTGAGTCTTCCCCATATTAGAAAATGTTACCATCACTGACTCAATTCACTCAGGTAAAAATATTGTAGTTATCCTTGATGGCTCTCTTTTTTTTTGTACCTCTCATATCTAAACAAGGCCTGTTACTGCTACTTCCAACACATATCTTGACCCTATCCACTATTCTCAGTCTCCTTTATCACAGTTTCAGCACAAGCCACTCATAAATTGTCAGAACTTCTGAAATCACCTCATAATTGTTCTTCCTAATTCTATGATGCACCCCCTGCCATAT...
Task1_train_42054
A variant was discovered on Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
GACTCAATTCACTCAGGTAAAAATATTGTAGTTATCCTTGATGGCTCTCTTTTTTTTTGTACCTCTCATATCTAAACAAGGCCTGTTACTGCTACTTCCAACACATATCTTGACCCTATCCACTATTCTCAGTCTCCTTTATCACAGTTTCAGCACAAGCCACTCATAAATTGTCAGAACTTCTGAAATCACCTCATAATTGTTCTTCCTAATTCTATGATGCACCCCCTGCCATATATTTTCTACAGAGTGTAAAGAGGGATTTTAAATGTATATCAATTCTATGCTATTTCTCCCCTCTTTAAAATTATAGCCCCTTG...
GACTCAATTCACTCAGGTAAAAATATTGTAGTTATCCTTGATGGCTCTCTTTTTTTTTGTACCTCTCATATCTAAACAAGGCCTGTTACTGCTACTTCCAACACATATCTTGACCCTATCCACTATTCTCAGTCTCCTTTATCACAGTTTCAGCACAAGCCACTCATAAATTGTCAGAACTTCTGAAATCACCTCATAATTGTTCTTCCTAATTCTATGATGCACCCCCTGCCATATATTTTCTACAGAGTGTAAAGAGGGATTTTAAATGTATATCAATTCTATGCTATTTCTCCCCTCTTTAAAATTATAGCCCCTTG...
Task1_train_42055
A sequence alteration has been identified on Chromosome 12. Is it disease-inducing or harmless?
Benign
CACAAGCCACTCATAAATTGTCAGAACTTCTGAAATCACCTCATAATTGTTCTTCCTAATTCTATGATGCACCCCCTGCCATATATTTTCTACAGAGTGTAAAGAGGGATTTTAAATGTATATCAATTCTATGCTATTTCTCCCCTCTTTAAAATTATAGCCCCTTGCATTTAGAAAAACCTTCAGTCTTCCTCCCCTGATTCATAACATTTCGCTTGCTCCTACATATCTGACCTTACCTTATAATATTCCCCGCCTCAGCTCCCATTATCCAGATATACTCAACTTCTAGCTCTGCTTTTCTAGCAAGCATAGCTCCA...
CACAAGCCACTCATAAATTGTCAGAACTTCTGAAATCACCTCATAATTGTTCTTCCTAATTCTATGATGCACCCCCTGCCATATATTTTCTACAGAGTGTAAAGAGGGATTTTAAATGTATATCAATTCTATGCTATTTCTCCCCTCTTTAAAATTATAGCCCCTTGCATTTAGAAAAACCTTCAGTCTTCCTCCCCTGATTCATAACATTTCGCTTGCTCCTACATATCTGACCTTACCTTATAATATTCCCCGCCTCAGCTCCCATTATCCAGATATACTCAACTTCTAGCTCTGCTTTTCTAGCAAGCATAGCTCCA...
Task1_train_42056
A variant has been detected on Chromosome 12. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
CTCAACTTCTAGCTCTGCTTTTCTAGCAAGCATAGCTCCATCAGACTTACGACCTTTGTACTGGCTGTTACCTCTGCCTGGAATGCCATTCTCCTAGAGCTTCACTAGCAGGTTGCTTCTTGTTATCAGACTTCAGAATAAAGACCATCTTCTCACAGAAGCCTTTGCTAACCAGACAGTCTAAAATAGAACATCCCATTTTGTAGTATCAATTCACTTTATATTAATGCTCTGAAGCTTTTCTTGTTTGTGAATTTGGTTATTGGTTGGCTAGTTATTTTATTTATGTCTACCTCTCTCTTCCCACTAGAATGCCCCAC...
CTCAACTTCTAGCTCTGCTTTTCTAGCAAGCATAGCTCCATCAGACTTACGACCTTTGTACTGGCTGTTACCTCTGCCTGGAATGCCATTCTCCTAGAGCTTCACTAGCAGGTTGCTTCTTGTTATCAGACTTCAGAATAAAGACCATCTTCTCACAGAAGCCTTTGCTAACCAGACAGTCTAAAATAGAACATCCCATTTTGTAGTATCAATTCACTTTATATTAATGCTCTGAAGCTTTTCTTGTTTGTGAATTTGGTTATTGGTTGGCTAGTTATTTTATTTATGTCTACCTCTCTCTTCCCACTAGAATGCCCCAC...
Task1_train_42057
A mutation on Chromosome 12 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
AGCCTGGGCAACAAAGTGAGACTCTTTTTTTAAAAAGAAGTTACAATGTAGCAAAAAGACAAGTATGAAATAATATGGTGGTTATGGAGATGAAGAGGTATAAAAGCTGTACTAGAGAAATAAAGCCTCATGAGTCTTAAAGGTTAACCAAGGACCAAAACAGCTATTAATATCATTCTGCTTTTACTATGTGTTTGTGACAGGGGCAACAGGATCATCGACCGGACAGACAGACACAAGTGGACCATCAGCTAAAGTAACAGGGAATTATGGACAATCATCTGAAATACCAGGGACAATTAAATCATCATCTGATGTTT...
AGCCTGGGCAACAAAGTGAGACTCTTTTTTTAAAAAGAAGTTACAATGTAGCAAAAAGACAAGTATGAAATAATATGGTGGTTATGGAGATGAAGAGGTATAAAAGCTGTACTAGAGAAATAAAGCCTCATGAGTCTTAAAGGTTAACCAAGGACCAAAACAGCTATTAATATCATTCTGCTTTTACTATGTGTTTGTGACAGGGGCAACAGGATCATCGACCGGACAGACAGACACAAGTGGACCATCAGCTAAAGTAACAGGGAATTATGGACAATCATCTGAAATACCAGGGACAATTAAATCATCATCTGATGTTT...
Task1_train_42058
A variant found on Chromosome 12 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
AGCTGAAATATCAGGGACAACCAGACCATTAGTTTCAGGGTTAAGGACAACTGGATCATCAGCTGAAGGATCAGGGACAACTGGACCTTCATCAAGAGAATCAGTGACAACTAGACCATTAGCTGAAGGTTCAGGGACAAGTGGACAATCGGTTACAGGATCAAGAGCAACTGGATTATCAGCTACAGAATTAGGGACAACTGTGTCTTTTACTGGAGGATTAGGTACAAGTAGATCATCTGCTAGAGAAACAAGGACAACTGGACCATCAGCTGACGGGTCAGGAACAACTGGACCATCTGTTGTGAGATCAGGGACAA...
AGCTGAAATATCAGGGACAACCAGACCATTAGTTTCAGGGTTAAGGACAACTGGATCATCAGCTGAAGGATCAGGGACAACTGGACCTTCATCAAGAGAATCAGTGACAACTAGACCATTAGCTGAAGGTTCAGGGACAAGTGGACAATCGGTTACAGGATCAAGAGCAACTGGATTATCAGCTACAGAATTAGGGACAACTGTGTCTTTTACTGGAGGATTAGGTACAAGTAGATCATCTGCTAGAGAAACAAGGACAACTGGACCATCAGCTGACGGGTCAGGAACAACTGGACCATCTGTTGTGAGATCAGGGACAA...
Task1_train_42059
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
CTGGGACAACTGGACAATCAGGTGCAGAATCAGGAACAACTGAACCATCAGCTAGAGTGGCAGGTGTAACTGGAACATCAGCTGAAGTATCAGGAAGAATTGAACCATCAGCTACAGAATCAAGTACAAGTAGACCACTAGGTGAAACAACAGGGACAACTATACCATCAATGGAAGGATCAGAGGCAACTGGACCATCTGTCATTGGATCAGAAACAACTAGACTATCAGTTATAGGATCAGGGACAACTGGAACTTCATCTGGAGGTTCAGGTGCAACAAGATCATCAGGTGGAGGAATGGGGACAACTGGACAATCA...
CTGGGACAACTGGACAATCAGGTGCAGAATCAGGAACAACTGAACCATCAGCTAGAGTGGCAGGTGTAACTGGAACATCAGCTGAAGTATCAGGAAGAATTGAACCATCAGCTACAGAATCAAGTACAAGTAGACCACTAGGTGAAACAACAGGGACAACTATACCATCAATGGAAGGATCAGAGGCAACTGGACCATCTGTCATTGGATCAGAAACAACTAGACTATCAGTTATAGGATCAGGGACAACTGGAACTTCATCTGGAGGTTCAGGTGCAACAAGATCATCAGGTGGAGGAATGGGGACAACTGGACAATCA...
Task1_train_42060
Here is a mutation located on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TTATAGGATCAGGGACAACTGGAACTTCATCTGGAGGTTCAGGTGCAACAAGATCATCAGGTGGAGGAATGGGGACAACTGGACAATCAACTGCAAGATCAGAAACAACTGGACCACTTTTTGGATTGACAGGAACATTTGGGCAATCTGCTACAGTGACTGGGACATCTTCAAATTCAGCTGGAGTGACAACACCTGAAAAATCACCTGGAGTGGCAATGACAACAGGACTGTTGGTTGAAGGATCAGCTACAACTCAACCACGTATTTTAGAATCAGAAACAACTGAATCATCAGCTGGAGTGATAGTGACATCTGGA...
TTATAGGATCAGGGACAACTGGAACTTCATCTGGAGGTTCAGGTGCAACAAGATCATCAGGTGGAGGAATGGGGACAACTGGACAATCAACTGCAAGATCAGAAACAACTGGACCACTTTTTGGATTGACAGGAACATTTGGGCAATCTGCTACAGTGACTGGGACATCTTCAAATTCAGCTGGAGTGACAACACCTGAAAAATCACCTGGAGTGGCAATGACAACAGGACTGTTGGTTGAAGGATCAGCTACAACTCAACCACGTATTTTAGAATCAGAAACAACTGAATCATCAGCTGGAGTGATAGTGACATCTGGA...
Task1_train_42061
Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
ATCAACTGCAAGATCAGAAACAACTGGACCACTTTTTGGATTGACAGGAACATTTGGGCAATCTGCTACAGTGACTGGGACATCTTCAAATTCAGCTGGAGTGACAACACCTGAAAAATCACCTGGAGTGGCAATGACAACAGGACTGTTGGTTGAAGGATCAGCTACAACTCAACCACGTATTTTAGAATCAGAAACAACTGAATCATCAGCTGGAGTGATAGTGACATCTGGACAATCAGCCAGAGTGACTGGGGCAACTGGACCATCAGCTGGAGAGACAGGAACAACTGAACCATCAACTGAAGGATCAGTTGCAG...
ATCAACTGCAAGATCAGAAACAACTGGACCACTTTTTGGATTGACAGGAACATTTGGGCAATCTGCTACAGTGACTGGGACATCTTCAAATTCAGCTGGAGTGACAACACCTGAAAAATCACCTGGAGTGGCAATGACAACAGGACTGTTGGTTGAAGGATCAGCTACAACTCAACCACGTATTTTAGAATCAGAAACAACTGAATCATCAGCTGGAGTGATAGTGACATCTGGACAATCAGCCAGAGTGACTGGGGCAACTGGACCATCAGCTGGAGAGACAGGAACAACTGAACCATCAACTGAAGGATCAGTTGCAG...
Task1_train_42062
This variant is found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
CTGAAGGATCAGGGGCAACTGGACCATCTGTTGTGGGATCAGGAACAACTAGACCATTAGCTGGTGAATCAGGTACAACTGAGTCATCAGCTGGAGTGACAGGGACAAGGCCATCATCATCAAGAGAATCAGCAACAACTGGACCATCAGATGAAGGATCAGGAACAACTGGACTATCAGCTGGAGTGACAGTGACATCTGGACAATCAGTTAGAAAGACTGGGACAACTGGAGCACCAGCTGGAGTTACAGAAACAACAAGACCATCTGTTGTCAAATCAGGGACAACTGGACCATCTGTTATAGGAACGAGGACAACT...
CTGAAGGATCAGGGGCAACTGGACCATCTGTTGTGGGATCAGGAACAACTAGACCATTAGCTGGTGAATCAGGTACAACTGAGTCATCAGCTGGAGTGACAGGGACAAGGCCATCATCATCAAGAGAATCAGCAACAACTGGACCATCAGATGAAGGATCAGGAACAACTGGACTATCAGCTGGAGTGACAGTGACATCTGGACAATCAGTTAGAAAGACTGGGACAACTGGAGCACCAGCTGGAGTTACAGAAACAACAAGACCATCTGTTGTCAAATCAGGGACAACTGGACCATCTGTTATAGGAACGAGGACAACT...
Task1_train_42063
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
AGGATTAGAGACAACTAGACCTTCAGCTGTAGGATCAGGAAAAACTGGACCTCCTGTTGTAAAAGCACAGACAACTGGACCATCAGCTGGAGTGACAGTGACATCCGGACAATCAGCTAGAATGACTGGGGCAAGTGGACCATCAGTAGGAGTGACAGGAACAACTGGACCAGCAAGTAAAGGATTAGGGACAATTAGACCATCTGTTGTAGGATTAGAGACTACTGAACTATCAGCTGAAGGATCAGGGACAACTGGACCACCTATTGTAGGAGAGACAACTGTACCATCAGCTGGAGTGACAGTTACATCTGGATACT...
AGGATTAGAGACAACTAGACCTTCAGCTGTAGGATCAGGAAAAACTGGACCTCCTGTTGTAAAAGCACAGACAACTGGACCATCAGCTGGAGTGACAGTGACATCCGGACAATCAGCTAGAATGACTGGGGCAAGTGGACCATCAGTAGGAGTGACAGGAACAACTGGACCAGCAAGTAAAGGATTAGGGACAATTAGACCATCTGTTGTAGGATTAGAGACTACTGAACTATCAGCTGAAGGATCAGGGACAACTGGACCACCTATTGTAGGAGAGACAACTGTACCATCAGCTGGAGTGACAGTTACATCTGGATACT...
Task1_train_42064
Located on Chromosome 12, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
TGGGGCAAGTGGACCATCAGTAGGAGTGACAGGAACAACTGGACCAGCAAGTAAAGGATTAGGGACAATTAGACCATCTGTTGTAGGATTAGAGACTACTGAACTATCAGCTGAAGGATCAGGGACAACTGGACCACCTATTGTAGGAGAGACAACTGTACCATCAGCTGGAGTGACAGTTACATCTGGATACTCAGATAGAGTGACTGGGGCAACTGAACCATTGGCTGGAGTAACAGGAACCATTAAACCATCTGTTGCAGGATCAGTGACAACTGGACCATCTGTTACAGGAGTAGAGACAACTGCAAAAACTACAT...
TGGGGCAAGTGGACCATCAGTAGGAGTGACAGGAACAACTGGACCAGCAAGTAAAGGATTAGGGACAATTAGACCATCTGTTGTAGGATTAGAGACTACTGAACTATCAGCTGAAGGATCAGGGACAACTGGACCACCTATTGTAGGAGAGACAACTGTACCATCAGCTGGAGTGACAGTTACATCTGGATACTCAGATAGAGTGACTGGGGCAACTGAACCATTGGCTGGAGTAACAGGAACCATTAAACCATCTGTTGCAGGATCAGTGACAACTGGACCATCTGTTACAGGAGTAGAGACAACTGCAAAAACTACAT...
Task1_train_42065
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
CTGGACCAACAGCTGGAGTGACAGGTACAAATGGACCATCATCAGCTGGAGTGACAGGGATAACTGGATCATCACCTGGAGTGACAGGGACAACTGGATCATCACCTGGAGTGACAGGGACAACTGGATCATCTGCAAGATCAGGGACAAGTATACCATCAGTTGGAAAAACAGGAACGACTAGAACATCAGTTGAAGAATCAAGGACAACTAGACCATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGACCATCAGCTGGAGTG...
CTGGACCAACAGCTGGAGTGACAGGTACAAATGGACCATCATCAGCTGGAGTGACAGGGATAACTGGATCATCACCTGGAGTGACAGGGACAACTGGATCATCACCTGGAGTGACAGGGACAACTGGATCATCTGCAAGATCAGGGACAAGTATACCATCAGTTGGAAAAACAGGAACGACTAGAACATCAGTTGAAGAATCAAGGACAACTAGACCATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGACCATCAGCTGGAGTG...
Task1_train_42066
This alteration on Chromosome 12 may affect genome function. Does it lead to a disease or is it benign?
Benign
CAACTAGACCATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGACCATCAGCTGGAGTGACAAGGACAACTGGACTGTCAGCTGGAGAGACAGGGACAACTGGACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTAGACTATCAGCTGGAGTGACAGGGACAACTGGACCATCACCTGGA...
CAACTAGACCATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGACCATCAGCTGGAGTGACAAGGACAACTGGACTGTCAGCTGGAGAGACAGGGACAACTGGACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTAGACTATCAGCTGGAGTGACAGGGACAACTGGACCATCACCTGGA...
Task1_train_42067
This mutation on Chromosome 12 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
ACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTAGACTATCAGCTGGAGTGACAGGGACAACTGGACCATCACCTGGAGTAACAGGTACAACTGGAACACCAGCTGGGGTTACAGGGACAACTGAACTATCAGCTGGAGTGACAGGGAAAACTGGACTATCATCTGAAGTGACAGAAACAACTGGATTATCATATGGGGTGAAAAGGACAATTGGACTATCAGCTGGGTCGACAG...
ACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTAGACTATCAGCTGGAGTGACAGGGACAACTGGACCATCACCTGGAGTAACAGGTACAACTGGAACACCAGCTGGGGTTACAGGGACAACTGAACTATCAGCTGGAGTGACAGGGAAAACTGGACTATCATCTGAAGTGACAGAAACAACTGGATTATCATATGGGGTGAAAAGGACAATTGGACTATCAGCTGGGTCGACAG...
Task1_train_42068
A variant was discovered on Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
GCTGGAGTGACAGGGACAACTGGACCATCAGCTGGTGTGACAGGGTCAACTGGACTATTAGCTGGGGTGACAGAGACAACTGGACAGTCAGCTAAAGTGACAGGGACAACTGGACAATCTGTCGGAGTGACAGGGACAACTAGATCATCAGGTGGAGTGACAGGGATAACTGGACTATCAGCTGGAGTGACAGGGACAAATGGACTATCAGCTGTGACAGGAATGACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGTTGGGGTGACAGGGATAGCTGGACTCTCAGCTGGCGTGACAGGGATAACTGG...
GCTGGAGTGACAGGGACAACTGGACCATCAGCTGGTGTGACAGGGTCAACTGGACTATTAGCTGGGGTGACAGAGACAACTGGACAGTCAGCTAAAGTGACAGGGACAACTGGACAATCTGTCGGAGTGACAGGGACAACTAGATCATCAGGTGGAGTGACAGGGATAACTGGACTATCAGCTGGAGTGACAGGGACAAATGGACTATCAGCTGTGACAGGAATGACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGTTGGGGTGACAGGGATAGCTGGACTCTCAGCTGGCGTGACAGGGATAACTGG...
Task1_train_42069
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TCAGCTGGAGTGACAGGGACAAATGGACTATCAGCTGTGACAGGAATGACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGTTGGGGTGACAGGGATAGCTGGACTCTCAGCTGGCGTGACAGGGATAACTGGACCATCAGCTGGAATAACAGGGACAACTACCATATCAGCTGGAGTAACAGGGACAAGTGGACTATCAGCTGAAGCAACAGGGATAACTGGACTATCGGCTGGGGTGACAGGGAAAACTGGACTATCTGCTGGAGTGACAGAGACAATTGGACTATCAGCTGAAGCGACAGGGACAAT...
TCAGCTGGAGTGACAGGGACAAATGGACTATCAGCTGTGACAGGAATGACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGTTGGGGTGACAGGGATAGCTGGACTCTCAGCTGGCGTGACAGGGATAACTGGACCATCAGCTGGAATAACAGGGACAACTACCATATCAGCTGGAGTAACAGGGACAAGTGGACTATCAGCTGAAGCAACAGGGATAACTGGACTATCGGCTGGGGTGACAGGGAAAACTGGACTATCTGCTGGAGTGACAGAGACAATTGGACTATCAGCTGAAGCGACAGGGACAAT...
Task1_train_42070
Located on Chromosome 12, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
AGGGATAACTGGACTATCAGCTGAGGTGACAAGGACAACTGGACTATCAGCTGGGGTGACAGGGACAATTGGACTATCAGCTGGGGTGACAGGGACAACCAGACCATCAGCTGGAGTGACAGGGACAACTGGACAATCAGCTGAAGTGACAGGGACAACTGAACCATCAGCTGGGTTGACAGAGACAACTGGATCATCAACTGGGGTGACAGGGGCAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGAATATCAACTGAAGTGACAGGGACAACTGGACCATCAGCTAGGGTGACAGGGACAACTGTACTATCAG...
AGGGATAACTGGACTATCAGCTGAGGTGACAAGGACAACTGGACTATCAGCTGGGGTGACAGGGACAATTGGACTATCAGCTGGGGTGACAGGGACAACCAGACCATCAGCTGGAGTGACAGGGACAACTGGACAATCAGCTGAAGTGACAGGGACAACTGAACCATCAGCTGGGTTGACAGAGACAACTGGATCATCAACTGGGGTGACAGGGGCAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGAATATCAACTGAAGTGACAGGGACAACTGGACCATCAGCTAGGGTGACAGGGACAACTGTACTATCAG...
Task1_train_42071
Here is a variant on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GACAACTGGAATATCAACTGAAGTGACAGGGACAACTGGACCATCAGCTAGGGTGACAGGGACAACTGTACTATCAGCTGGAGTGACTGGGATAACTGGGCTATCAGCTATAGTGACAGAGACAACTGGATCATCTGCAAGATCAGGGACAAGTACACCATCAGTTGGAGAAACAGGAACAACTAGAACATCGGTTGAAGAATCAAGGGCAACCAGACCATCAGCAGGAATAACAGGTACAAATGGACAATCAGCTGAAGTGACATGGATAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGAATATCAGCTGGGG...
GACAACTGGAATATCAACTGAAGTGACAGGGACAACTGGACCATCAGCTAGGGTGACAGGGACAACTGTACTATCAGCTGGAGTGACTGGGATAACTGGGCTATCAGCTATAGTGACAGAGACAACTGGATCATCTGCAAGATCAGGGACAAGTACACCATCAGTTGGAGAAACAGGAACAACTAGAACATCGGTTGAAGAATCAAGGGCAACCAGACCATCAGCAGGAATAACAGGTACAAATGGACAATCAGCTGAAGTGACATGGATAACTGGACCATTAGCTGGAGTGACAGGGACAACTGGAATATCAGCTGGGG...
Task1_train_42072
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
CAATTGGACCATCAGCTGAAGAGACAGGGGCAACTGGACTATCAGCAGAAGTGACAGGGACAACTGGATCATTAGCTGAAGTGACAGGGACAACTGGGCTATCAGCTGGGGTGACAGGGACAATTGGATCATCAGCTGTGGTGACAGGGACAACTGGACTATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAGCTGGACCATTAGCTGGAGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGAGACAACTGGACAATCAGCTGGG...
CAATTGGACCATCAGCTGAAGAGACAGGGGCAACTGGACTATCAGCAGAAGTGACAGGGACAACTGGATCATTAGCTGAAGTGACAGGGACAACTGGGCTATCAGCTGGGGTGACAGGGACAATTGGATCATCAGCTGTGGTGACAGGGACAACTGGACTATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAGCTGGACCATTAGCTGGAGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGAGACAACTGGACAATCAGCTGGG...
Task1_train_42073
Mutation context: Chromosome 12. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
CATCAGCTGTGGTGACAGGGACAACTGGACTATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAGCTGGACCATTAGCTGGAGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGAGACAACTGGACAATCAGCTGGGGTGACAGAGAGTACTGGACTATCACCTGGGGTGACAGGGACAATTGGATCATCGGCTGTGGTGACAGGGATAAAGGGACTATCAGCAGGAGTGACAGGGACCACTGGACCATCAGCTGAAGAGACAGGG...
CATCAGCTGTGGTGACAGGGACAACTGGACTATCAGCTGGAATAACAGGTACAAATGGACTATCAGCTGAAGTGACAGGGACAGCTGGACCATTAGCTGGAGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGAGACAACTGGACAATCAGCTGGGGTGACAGAGAGTACTGGACTATCACCTGGGGTGACAGGGACAATTGGATCATCGGCTGTGGTGACAGGGATAAAGGGACTATCAGCAGGAGTGACAGGGACCACTGGACCATCAGCTGAAGAGACAGGG...
Task1_train_42074
A variant found on Chromosome 12 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
AAAAGGCTACTTGTTATAGCAAAGAACACACAGATAGTGTCTAGATTCAGATCTTTTCATGGCAGAATGAGTCAGTATGGTGATCTCTGGACTTTCTGTGTTTCAGGTACCACTGGGGTAACCACTGGCACAACTCTTGCCCCTAGAAGTTTCAACATAGGTGAGAACAAGCTGAGTAGAATTTTCCCATTGGAACTTCTTTCAAGGAGCTATCTCCTCAGGTTTTATTTCTAGGCAAAATTATCATGATAATAATCCAAAATCCTTAATGTCTTCCCAATTGTGTCTTTCTTCTTTTCCTCATTCTCAGAGGCCAGAAG...
AAAAGGCTACTTGTTATAGCAAAGAACACACAGATAGTGTCTAGATTCAGATCTTTTCATGGCAGAATGAGTCAGTATGGTGATCTCTGGACTTTCTGTGTTTCAGGTACCACTGGGGTAACCACTGGCACAACTCTTGCCCCTAGAAGTTTCAACATAGGTGAGAACAAGCTGAGTAGAATTTTCCCATTGGAACTTCTTTCAAGGAGCTATCTCCTCAGGTTTTATTTCTAGGCAAAATTATCATGATAATAATCCAAAATCCTTAATGTCTTCCCAATTGTGTCTTTCTTCTTTTCCTCATTCTCAGAGGCCAGAAG...
Task1_train_42075
This mutation occurs on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
Benign
AGGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGGGGCATGATCTTGGCTCACTGCAGCCTTGACCTCCTAGGCTCAGGTGATCCTGCCACCTCAGCCTCCCAGGTAGCTGGGACTACAGGCTATTTTTTGTAGAGATGGGGTTTCATTACGTTGTCCAGTCTGGTCTCAAACTCCTGGACTCAAGTGATCTGCCAGCCTTGGCTTCCCAAAGTGCTGGAATTATAGGTGTGAGTCACCACACCCAACCGTCAGCATGTTCTTACTTTTTCCCTTTCTTTTCTTTCTCAGAGGCTACAACTGCTACAGGGACTCCTGGAG...
AGGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGGGGCATGATCTTGGCTCACTGCAGCCTTGACCTCCTAGGCTCAGGTGATCCTGCCACCTCAGCCTCCCAGGTAGCTGGGACTACAGGCTATTTTTTGTAGAGATGGGGTTTCATTACGTTGTCCAGTCTGGTCTCAAACTCCTGGACTCAAGTGATCTGCCAGCCTTGGCTTCCCAAAGTGCTGGAATTATAGGTGTGAGTCACCACACCCAACCGTCAGCATGTTCTTACTTTTTCCCTTTCTTTTCTTTCTCAGAGGCTACAACTGCTACAGGGACTCCTGGAG...
Task1_train_42076
A genomic change on Chromosome 12 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
ATGGAGGCATGGCTGGGAAGGCCTCAGGAAACTTACAATCATGGTGGAAGGTGAAGGGGAAGCAAGTACATCTTTACTTGGTGACAGTAGAGAAAGACAGAGTGAAAGAGGAAGTGCTACACACTTTTAAAGAAGCAGTTCTCGTGAGAACTCACTATCACAAGAACAGCAAAGGGGAAATCCAGCCTCTATGATCCAATCAGCTCCAAACAGGTTCCTCCCCCAACACTGGGGATTATAATTCAACATGAGATATGAGTGGGGACTGAGAGTCAAACCTTATCACTCGGTTATCTAAGTCAGGCATTGCTCCATTTCCT...
ATGGAGGCATGGCTGGGAAGGCCTCAGGAAACTTACAATCATGGTGGAAGGTGAAGGGGAAGCAAGTACATCTTTACTTGGTGACAGTAGAGAAAGACAGAGTGAAAGAGGAAGTGCTACACACTTTTAAAGAAGCAGTTCTCGTGAGAACTCACTATCACAAGAACAGCAAAGGGGAAATCCAGCCTCTATGATCCAATCAGCTCCAAACAGGTTCCTCCCCCAACACTGGGGATTATAATTCAACATGAGATATGAGTGGGGACTGAGAGTCAAACCTTATCACTCGGTTATCTAAGTCAGGCATTGCTCCATTTCCT...
Task1_train_42077
Here is a variant on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
Benign
TTAAATGGTTTTACAGGTTGACAGGGAACTCTTCAGAGCTCCTCTCATAATTAGATATTTCTTTTGGTGTTATTGTTTATGAGAGTAATGTCATATCTGTTTCATGGCCTTTGAATATTTTCCAAATATGTTTTTTCTGTTTTTCTGTCTCTCAGAGTCCACAACTTCCCTACCACAAAGTGCAAAAACAAGAGGTGGAATACTGACAGGTGAGCATTGCTGGGTCATTGCACTCACCTGGTAATAATATTCAATAAAGCCTGTGGTTTGAAAAGTATCCATACTCTCATTTCTCCCATATTAACATTGTTAGGAAAGTT...
TTAAATGGTTTTACAGGTTGACAGGGAACTCTTCAGAGCTCCTCTCATAATTAGATATTTCTTTTGGTGTTATTGTTTATGAGAGTAATGTCATATCTGTTTCATGGCCTTTGAATATTTTCCAAATATGTTTTTTCTGTTTTTCTGTCTCTCAGAGTCCACAACTTCCCTACCACAAAGTGCAAAAACAAGAGGTGGAATACTGACAGGTGAGCATTGCTGGGTCATTGCACTCACCTGGTAATAATATTCAATAAAGCCTGTGGTTTGAAAAGTATCCATACTCTCATTTCTCCCATATTAACATTGTTAGGAAAGTT...
Task1_train_42078
Here is a variant on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
Benign
CTGGAACCTGGGATTGACAACACAGGCAAGTCAAAAAGCACACAGAGAATGCTACACCATGGCTGCTCAGATGGCAGTCTCCTAGGGCAACGTAACCCTGTACTCCCCATACTGCAGACTTCATGCTTGCTTTCTTTTCTCTCAGAGGCCACAAGTTCCACAGGAAGGATCAGGGCGACCGGATCAGAAGCTCCAGGAGGTAAGGTTCACCAGTCCCAGACCTCAGGGTTCTCCTCATTTCCCTGTTATGCTGAGGTGAACACATAAGTGAGAATGGGGGCAAAGGAAAGGGGGTTACTTCTTGCCTGGAAGCACAACAT...
CTGGAACCTGGGATTGACAACACAGGCAAGTCAAAAAGCACACAGAGAATGCTACACCATGGCTGCTCAGATGGCAGTCTCCTAGGGCAACGTAACCCTGTACTCCCCATACTGCAGACTTCATGCTTGCTTTCTTTTCTCTCAGAGGCCACAAGTTCCACAGGAAGGATCAGGGCGACCGGATCAGAAGCTCCAGGAGGTAAGGTTCACCAGTCCCAGACCTCAGGGTTCTCCTCATTTCCCTGTTATGCTGAGGTGAACACATAAGTGAGAATGGGGGCAAAGGAAAGGGGGTTACTTCTTGCCTGGAAGCACAACAT...
Task1_train_42079
A mutation on Chromosome 12 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GGTTCTCCTCATTTCCCTGTTATGCTGAGGTGAACACATAAGTGAGAATGGGGGCAAAGGAAAGGGGGTTACTTCTTGCCTGGAAGCACAACATGTATTCTGACCATCCTGAGTATTCCTGCTAAAGAATTTGAGACACTGGGTTATGTATGTCAGGCATTGCTCCATGGCCTGTGTGACAGTGTTAGTTGTCTGGACACCTGGTTGAGGCCCACTGACCTGCAGCAGTCTTCTTGGAACCCTGATTGTCCCCACTTGCTCATGATGATTCTGCAAAGTACTATCACCTGCTGCCATCTCTCAAACGTATTTATTACACT...
GGTTCTCCTCATTTCCCTGTTATGCTGAGGTGAACACATAAGTGAGAATGGGGGCAAAGGAAAGGGGGTTACTTCTTGCCTGGAAGCACAACATGTATTCTGACCATCCTGAGTATTCCTGCTAAAGAATTTGAGACACTGGGTTATGTATGTCAGGCATTGCTCCATGGCCTGTGTGACAGTGTTAGTTGTCTGGACACCTGGTTGAGGCCCACTGACCTGCAGCAGTCTTCTTGGAACCCTGATTGTCCCCACTTGCTCATGATGATTCTGCAAAGTACTATCACCTGCTGCCATCTCTCAAACGTATTTATTACACT...
Task1_train_42080
Given this context: Chromosome 12 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TTTCTGTCTCTCAGGGGCCACAGCTTCCCTAGGTGGAAGTGCAATGACAAGAGGTAGAATAACCACCGGTGAGCATTGCTCGGTCGTTGCACTCACTCTTTAATAATATCCATGAAAGGTTATTGCTTGAAATGTATGCATGTCACATATTTTTTCACATGGAACATTGTTAGGTAAGATCTTACCTTCATTTATTAAGTATATCAAGTTTGTGCAAAAGTAACTGCAGGTTTGCTATTGAAATTAATAGCAAATCAGACACACAGAAATAGCAACTCAGTGATAGCAAATCAGAAACTCAAAATTTAATATATTTCTGT...
TTTCTGTCTCTCAGGGGCCACAGCTTCCCTAGGTGGAAGTGCAATGACAAGAGGTAGAATAACCACCGGTGAGCATTGCTCGGTCGTTGCACTCACTCTTTAATAATATCCATGAAAGGTTATTGCTTGAAATGTATGCATGTCACATATTTTTTCACATGGAACATTGTTAGGTAAGATCTTACCTTCATTTATTAAGTATATCAAGTTTGTGCAAAAGTAACTGCAGGTTTGCTATTGAAATTAATAGCAAATCAGACACACAGAAATAGCAACTCAGTGATAGCAAATCAGAAACTCAAAATTTAATATATTTCTGT...
Task1_train_42081
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
TGTTGCATGGGACAAGTACGAATTACTTCTAGCACTGCAAGTGTCAGAGTAACAATTTGCTTCTAAGTGGGGATTTGAGATCCCTATTCAAATCAGTGGACAAACAGTTGAACTAGTGACTCCATCTCTTTGTTATTGTAAGTATTACTAGTGTAGTCTCTGGAAAAACACTGAAACCTGGAAGTTACAACACAAGCCAGTCTGAAAATACATGCAAAATCTGGACATGGGCACCGTGGTTGACATACTCTGCCCACAGCACTGTGTATAGTCTCCCAAACCTTAATCTTTACCCCTTCTTTCTTTTCTTTCTCAGGTGC...
TGTTGCATGGGACAAGTACGAATTACTTCTAGCACTGCAAGTGTCAGAGTAACAATTTGCTTCTAAGTGGGGATTTGAGATCCCTATTCAAATCAGTGGACAAACAGTTGAACTAGTGACTCCATCTCTTTGTTATTGTAAGTATTACTAGTGTAGTCTCTGGAAAAACACTGAAACCTGGAAGTTACAACACAAGCCAGTCTGAAAATACATGCAAAATCTGGACATGGGCACCGTGGTTGACATACTCTGCCCACAGCACTGTGTATAGTCTCCCAAACCTTAATCTTTACCCCTTCTTTCTTTTCTTTCTCAGGTGC...
Task1_train_42082
Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CTGGAAGTTCTAACACAGATAGCTTAACAAGAAATACCTCTTATTTTAATGTCAGATGTCATGATTTTTTTAAGGCTTCTCTGATAAAATATCTTCTTCCAGTATTCTAAATTCCCAGCCTTTTTCATTCTCCTCTTTCTTCCATCAGAGGCCACCACTTCCACAGAAGGGACTGGTACTTCTGGAACTGGATTCAAAACTGGTGAGAAGAAACAGCCCATGATTTGGCATCATAAGTATTAGGTCTCTCAAGCTTTTCTAGAGAGAGTTTGTGTTTGTGTTATTTAGGGACATTGCAAGTGATTCAAAATAGATTTGCT...
CTGGAAGTTCTAACACAGATAGCTTAACAAGAAATACCTCTTATTTTAATGTCAGATGTCATGATTTTTTTAAGGCTTCTCTGATAAAATATCTTCTTCCAGTATTCTAAATTCCCAGCCTTTTTCATTCTCCTCTTTCTTCCATCAGAGGCCACCACTTCCACAGAAGGGACTGGTACTTCTGGAACTGGATTCAAAACTGGTGAGAAGAAACAGCCCATGATTTGGCATCATAAGTATTAGGTCTCTCAAGCTTTTCTAGAGAGAGTTTGTGTTTGTGTTATTTAGGGACATTGCAAGTGATTCAAAATAGATTTGCT...
Task1_train_42083
A mutation on Chromosome 12 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GTCTTCATACCTCCAATTCCTTTCTCTCTCAGAGGCCACAACTTTCTCAGGAGGCAGCGGGGCCACCTGAGCAGGATTACCCAGAGGTGAGCTTGGCAGACTGAGACCTGGGGCTCTCATCATCTCTCTATCAGGGTGGGTACAGGGAACAAATAATGTGAACGCATTTGAAGGAAGGGCCTGCATTTTCTCCTCAGCCATATTGTGTCATATCAACCTTGGTCAGATATTAGACTTGTAAATTTCATGACTTGGATTGTCAGCCAAGCTGTCTGCACTATTCTAGTTTATGGAGACATTATTTTTTTCTGATTAAACAT...
GTCTTCATACCTCCAATTCCTTTCTCTCTCAGAGGCCACAACTTTCTCAGGAGGCAGCGGGGCCACCTGAGCAGGATTACCCAGAGGTGAGCTTGGCAGACTGAGACCTGGGGCTCTCATCATCTCTCTATCAGGGTGGGTACAGGGAACAAATAATGTGAACGCATTTGAAGGAAGGGCCTGCATTTTCTCCTCAGCCATATTGTGTCATATCAACCTTGGTCAGATATTAGACTTGTAAATTTCATGACTTGGATTGTCAGCCAAGCTGTCTGCACTATTCTAGTTTATGGAGACATTATTTTTTTCTGATTAAACAT...
Task1_train_42084
An alteration has been detected on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
Benign
CAATTCCTTTCTCTCTCAGAGGCCACAACTTTCTCAGGAGGCAGCGGGGCCACCTGAGCAGGATTACCCAGAGGTGAGCTTGGCAGACTGAGACCTGGGGCTCTCATCATCTCTCTATCAGGGTGGGTACAGGGAACAAATAATGTGAACGCATTTGAAGGAAGGGCCTGCATTTTCTCCTCAGCCATATTGTGTCATATCAACCTTGGTCAGATATTAGACTTGTAAATTTCATGACTTGGATTGTCAGCCAAGCTGTCTGCACTATTCTAGTTTATGGAGACATTATTTTTTTCTGATTAAACATATTAGAAAATATT...
CAATTCCTTTCTCTCTCAGAGGCCACAACTTTCTCAGGAGGCAGCGGGGCCACCTGAGCAGGATTACCCAGAGGTGAGCTTGGCAGACTGAGACCTGGGGCTCTCATCATCTCTCTATCAGGGTGGGTACAGGGAACAAATAATGTGAACGCATTTGAAGGAAGGGCCTGCATTTTCTCCTCAGCCATATTGTGTCATATCAACCTTGGTCAGATATTAGACTTGTAAATTTCATGACTTGGATTGTCAGCCAAGCTGTCTGCACTATTCTAGTTTATGGAGACATTATTTTTTTCTGATTAAACATATTAGAAAATATT...
Task1_train_42085
This mutation is located on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
Benign
TTCATTAGGTAAATATGGAAAAAGCCTTTTACATGACCTTTAACCTTGGCAAAGATTGGCAGGTATATTAGCCATGGTGTTAACCTTGGCTTCGCAAAGTCAAATGGTAGACATGCAACACGTTTATCTTTCTGTCAGTTATAGGTCCAGAAGTATCTTTTGCTGTTTCAAAGTCACAGATAGACTTGTTGCCCACATTCTTCCAGGGATCGCAAAATTGTTCTCACGTTGATCTTTTTTTTTTTTTTTTTTTCCCACCTATGCACAGCTGCAGTGCCCTCTGGTACAACAGTTGCCCCTGGGAGCTCCAACTCAGGTAA...
TTCATTAGGTAAATATGGAAAAAGCCTTTTACATGACCTTTAACCTTGGCAAAGATTGGCAGGTATATTAGCCATGGTGTTAACCTTGGCTTCGCAAAGTCAAATGGTAGACATGCAACACGTTTATCTTTCTGTCAGTTATAGGTCCAGAAGTATCTTTTGCTGTTTCAAAGTCACAGATAGACTTGTTGCCCACATTCTTCCAGGGATCGCAAAATTGTTCTCACGTTGATCTTTTTTTTTTTTTTTTTTTCCCACCTATGCACAGCTGCAGTGCCCTCTGGTACAACAGTTGCCCCTGGGAGCTCCAACTCAGGTAA...
Task1_train_42086
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
GTGGGCCCAAATTTCCTAAAGGCTTTGCCTTTTCAGATACTAACCTCAGGGGTCTAGGACTCTGCAGAGAAGGGTTACAATAATAGCTCTGGCTCTGAAATGGTTTTCCCTTTGAAAAGAGCATGGTCTATATAACATTAGTGTACTAGCTTCAAATCAGTGTAGAAATCATTAAGATGCCTATATTTTAGTTCAGAGATAAAAATTCAAAAATATTTTTTCTTCCTTCTTTCTCTTTCTTTCCTCCTTCTTCTCCTTCTCTTTTTCTTTTCATTAGGAGCCACCTCCGGAGTACCGGGAAGTAAGACAGGTAAACTTGG...
GTGGGCCCAAATTTCCTAAAGGCTTTGCCTTTTCAGATACTAACCTCAGGGGTCTAGGACTCTGCAGAGAAGGGTTACAATAATAGCTCTGGCTCTGAAATGGTTTTCCCTTTGAAAAGAGCATGGTCTATATAACATTAGTGTACTAGCTTCAAATCAGTGTAGAAATCATTAAGATGCCTATATTTTAGTTCAGAGATAAAAATTCAAAAATATTTTTTCTTCCTTCTTTCTCTTTCTTTCCTCCTTCTTCTCCTTCTCTTTTTCTTTTCATTAGGAGCCACCTCCGGAGTACCGGGAAGTAAGACAGGTAAACTTGG...
Task1_train_42087
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TGTTCTCATTGTTCTATTCCCACCTATGAGTGAGAACATGTTTGGTTTTCTGTCCTTGCGATAGTTTGCTCAGAATGATGGTTTCCAACTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTATATATGTGCCACATTTTCTTAATGCAGTCTATCATTGATGGACATTTGGGTTGGTTCCAACTCTTTGCTATTGTGAATAGTGTCACAGTAAACATACATGTGCATGTGTTTTTATAACAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGAGATGGCT...
TGTTCTCATTGTTCTATTCCCACCTATGAGTGAGAACATGTTTGGTTTTCTGTCCTTGCGATAGTTTGCTCAGAATGATGGTTTCCAACTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTATATATGTGCCACATTTTCTTAATGCAGTCTATCATTGATGGACATTTGGGTTGGTTCCAACTCTTTGCTATTGTGAATAGTGTCACAGTAAACATACATGTGCATGTGTTTTTATAACAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGAGATGGCT...
Task1_train_42088
This variant is located on Chromosome 12. Evaluate its biological effect and specify any disease association.
Benign
TAGAACATGTATTTCCAGTTTATGCAATTCACAAAAATATTTTCATGCTGTTAATATTAAATGATTTCTTATTTAATCAGTAATTCATTGTTTGCTTATTTATTTGTAGAAAGACAGGTCGAAAGAGGGGGGAAATTTGGAACATAGGGGCAAATGTTACTTTATCACATATGAATCTATATATATTAAATGAGAAATATAGCATCTTATTTTGAAAAAGAGTTTAAAAGCATATCAAACATCTAGCACACCAATCATCACTGGTTATTGAACAACTAACAAAATCTCATCTTTCAAACAGCAAGAAGGCTCAGAAGGTT...
TAGAACATGTATTTCCAGTTTATGCAATTCACAAAAATATTTTCATGCTGTTAATATTAAATGATTTCTTATTTAATCAGTAATTCATTGTTTGCTTATTTATTTGTAGAAAGACAGGTCGAAAGAGGGGGGAAATTTGGAACATAGGGGCAAATGTTACTTTATCACATATGAATCTATATATATTAAATGAGAAATATAGCATCTTATTTTGAAAAAGAGTTTAAAAGCATATCAAACATCTAGCACACCAATCATCACTGGTTATTGAACAACTAACAAAATCTCATCTTTCAAACAGCAAGAAGGCTCAGAAGGTT...
Task1_train_42089
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
TGTCCTCAGGGGAGACAGTAGTGGCCCCGGCCTGAGCACCTGTCATACAGCAGAAGCTAAAGGAATGAGTGTGATCATGTCCATAGGTGTCTCATGTCCACATATCCTCATGTGCCCCAAGTCAGATATTCCAAGGTGTATCAATGAAAACTCAGTGATAATTTTTCAAGTTTAGTTCATGAAAAAAAGAATCAGACAGAGAATGCATAGATTAGTGAATGTGTTCACACTGGTAAACACCCAGTCAGATCTCCACCTGGGGTTTCTTACTAGTGATTCAAGAGCAAGAACTGAATTGGGACATATTTTGCTGGTGAAGA...
TGTCCTCAGGGGAGACAGTAGTGGCCCCGGCCTGAGCACCTGTCATACAGCAGAAGCTAAAGGAATGAGTGTGATCATGTCCATAGGTGTCTCATGTCCACATATCCTCATGTGCCCCAAGTCAGATATTCCAAGGTGTATCAATGAAAACTCAGTGATAATTTTTCAAGTTTAGTTCATGAAAAAAAGAATCAGACAGAGAATGCATAGATTAGTGAATGTGTTCACACTGGTAAACACCCAGTCAGATCTCCACCTGGGGTTTCTTACTAGTGATTCAAGAGCAAGAACTGAATTGGGACATATTTTGCTGGTGAAGA...
Task1_train_42090
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
TTCTTCATAGTTTCATGCATTTCACTAATTTGCAGTACCTATCTCAGAATAGAGGATTTAAATTTAGTTTTATTTGCTATTATCTGTGAAATTATTGGTCACTGGAGTTTATGAGAGCAAATCCCCTTGCTAAGGATTTACCCATGATGTACAGCACATCATTTTTAAACAGGTTATTATCCACTGACAAGGACTTCATTCAAATACAAAATTGAAAAGGAGGATATATACTCAAATGTACAGAGTGTTCTGGGAAATATTCTCTTGTTTGAAGTTAAGTAAGTTTTCCTTCATTTTGTACTGGTAACTATTTCAGATTT...
TTCTTCATAGTTTCATGCATTTCACTAATTTGCAGTACCTATCTCAGAATAGAGGATTTAAATTTAGTTTTATTTGCTATTATCTGTGAAATTATTGGTCACTGGAGTTTATGAGAGCAAATCCCCTTGCTAAGGATTTACCCATGATGTACAGCACATCATTTTTAAACAGGTTATTATCCACTGACAAGGACTTCATTCAAATACAAAATTGAAAAGGAGGATATATACTCAAATGTACAGAGTGTTCTGGGAAATATTCTCTTGTTTGAAGTTAAGTAAGTTTTCCTTCATTTTGTACTGGTAACTATTTCAGATTT...
Task1_train_42091
A variant affecting Chromosome 12 has been observed. Determine if it's benign or associated with disease.
Benign
CCCTCAAATTCTTTCCAAGTTCCAAGGCTGAATGCTTACAAAGTAAATATCACGTGTGCTTTACTGACCATTATATCCCATCCACTGGCAGACAAATGGGTAAGCAAAATGTGGCATACACCTACCATGGGGTATTATTCAGCCTTAAAAGGGAAGGAAATTCTAACACATGCTACAACATAGATGAATCTCGACAACATACTAAGTGAAATAAGCCCATTACAAAAAGACAAATACTGTATGATTCCACTTATATGAGACACCTAGAGTTGTCTAATCCATAGAGACAGAATGAAAAATGGTGGTTCCCATTTTTCAGA...
CCCTCAAATTCTTTCCAAGTTCCAAGGCTGAATGCTTACAAAGTAAATATCACGTGTGCTTTACTGACCATTATATCCCATCCACTGGCAGACAAATGGGTAAGCAAAATGTGGCATACACCTACCATGGGGTATTATTCAGCCTTAAAAGGGAAGGAAATTCTAACACATGCTACAACATAGATGAATCTCGACAACATACTAAGTGAAATAAGCCCATTACAAAAAGACAAATACTGTATGATTCCACTTATATGAGACACCTAGAGTTGTCTAATCCATAGAGACAGAATGAAAAATGGTGGTTCCCATTTTTCAGA...
Task1_train_42092
A genomic variant on Chromosome 12 is under review. What is the biological outcome — benign or pathogenic?
Benign
ACACCAGTTGTAAGTTTAGGCCTCCAGAACTTCTGACCAACTGCCTTCAAGTTGGAGTTCCTATGACCTCCTCTGTGGGTATGGAGGGCTCAAGATTGAACCCAGATTGATTCACTAAGTTGCAGCATATACTTTACCTAAGTTTTCCATCGTTTTGCCTAAGACTTTTTCCTTCAAAATATATAAAAGCCTCAAAACTTTGGCTTGAGTAAGAATGAAATGCAGAAAAACATAAGCTGTATCTCAGTCACAAGTTTTGCATTTCATCATATAATAGTGAAAATCATAAATCTTTGGAGAAGGTTTTACTCTTTCACCCA...
ACACCAGTTGTAAGTTTAGGCCTCCAGAACTTCTGACCAACTGCCTTCAAGTTGGAGTTCCTATGACCTCCTCTGTGGGTATGGAGGGCTCAAGATTGAACCCAGATTGATTCACTAAGTTGCAGCATATACTTTACCTAAGTTTTCCATCGTTTTGCCTAAGACTTTTTCCTTCAAAATATATAAAAGCCTCAAAACTTTGGCTTGAGTAAGAATGAAATGCAGAAAAACATAAGCTGTATCTCAGTCACAAGTTTTGCATTTCATCATATAATAGTGAAAATCATAAATCTTTGGAGAAGGTTTTACTCTTTCACCCA...
Task1_train_42093
Consider a variant on Chromosome 12. Determine its clinical classification and disease relevance.
Benign
AAGGTTATTCAATTTTTACATCTTCAACAGCCTTTATCTTGCAATGTTCTTAACAAGAAAAAAAACAAGGAAATATAAATCTTTACTATTAAAACAATGGCTTATTTTATTTGTATGAGAACAATTATCAAAAAAATTAAAAGTGTACATATCTGAAATAAACAAATTAGAGGTTAAATCCTGCATAGGAATATCCCAAACTCTTCTATTGTAGCAAACAGTGCTGAAAATATTTAAGTCTTTGGCAAGGTTTGGAGCAGAGGTAGCATTAATAATATACTTATGTAGATAAACGTACGTGTATATATATTTATATAATG...
AAGGTTATTCAATTTTTACATCTTCAACAGCCTTTATCTTGCAATGTTCTTAACAAGAAAAAAAACAAGGAAATATAAATCTTTACTATTAAAACAATGGCTTATTTTATTTGTATGAGAACAATTATCAAAAAAATTAAAAGTGTACATATCTGAAATAAACAAATTAGAGGTTAAATCCTGCATAGGAATATCCCAAACTCTTCTATTGTAGCAAACAGTGCTGAAAATATTTAAGTCTTTGGCAAGGTTTGGAGCAGAGGTAGCATTAATAATATACTTATGTAGATAAACGTACGTGTATATATATTTATATAATG...
Task1_train_42094
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
TCCTCAGGCATTGCAATTGCAAACTCACCCTATAATTAAATCAAAATGAAGGTAGAACACATGTACTAATTTATGGGGTCAAGTAGGTTTCTTTCATCAAAGTCTTATGTACTTACTGGGAAGAGGACAATGGGCACAGTTAGTGTTACTGCCACAAGGACTGCCAGGCGAACCATGAGAAGAGGGATGTCTAATGTATACACTTTGCTGTAGGCATGAAGTAATTCATCTTCAACTTCTCCTACAACAGGAAAAAGAGAATGAAACCGCTTGGTGTTGTCAAATCAGCACAGGTCACTTATGGCAACATTTTATAGAGA...
TCCTCAGGCATTGCAATTGCAAACTCACCCTATAATTAAATCAAAATGAAGGTAGAACACATGTACTAATTTATGGGGTCAAGTAGGTTTCTTTCATCAAAGTCTTATGTACTTACTGGGAAGAGGACAATGGGCACAGTTAGTGTTACTGCCACAAGGACTGCCAGGCGAACCATGAGAAGAGGGATGTCTAATGTATACACTTTGCTGTAGGCATGAAGTAATTCATCTTCAACTTCTCCTACAACAGGAAAAAGAGAATGAAACCGCTTGGTGTTGTCAAATCAGCACAGGTCACTTATGGCAACATTTTATAGAGA...
Task1_train_42095
This mutation occurs on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
Benign
TGATGTCCTATGTTTAAGCCAGGAGATAAAAGGTAAGTCACTGTGAGTGGTTCGGAACACATTGCATGAAGCTTAAGAAAAGCATTCATGCTCTTTCTACTCTGGCTTTTGAGGATCAAGTGGAATGACACTATGACAGTTCTTAGGAGGGTGTCCCCTTTAACTCTGTCAACCTCGGCAGAGCTCATATTTGTGTGCATGCCTTTCAGAAACATCCTCAGGTTTGAATCAATTTACTGAGGGTAATGCAGTGAAGGAGAAGTAATAAAAAAGTATTGAATGTCATCTATATTCTGGTCACCCATCTCATCCTTGAAAAG...
TGATGTCCTATGTTTAAGCCAGGAGATAAAAGGTAAGTCACTGTGAGTGGTTCGGAACACATTGCATGAAGCTTAAGAAAAGCATTCATGCTCTTTCTACTCTGGCTTTTGAGGATCAAGTGGAATGACACTATGACAGTTCTTAGGAGGGTGTCCCCTTTAACTCTGTCAACCTCGGCAGAGCTCATATTTGTGTGCATGCCTTTCAGAAACATCCTCAGGTTTGAATCAATTTACTGAGGGTAATGCAGTGAAGGAGAAGTAATAAAAAAGTATTGAATGTCATCTATATTCTGGTCACCCATCTCATCCTTGAAAAG...
Task1_train_42096
A genomic change on Chromosome 12 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
GAGGGGCCTGCAGTCCAGGAGGAGCAGAGGAAAGAAACTGGGGCCAGGCAGACACCTTCATCTGAGGAGATGCATTCCCACAGCCATTCTCCAACCTGCAGACAAGAGAGAAGGGAGGTGAGTGAGCCCAGGTATCCCTGGGGCTGCAGCAGGGAGGCCCTTGGGGCTCTGGATTCTCCCCGGCCCTCACCAGTGGTTCAGAGGTAAGCACGACCAGGTAAGTATCACATAAAGAGGGGAGAACACGGTCTTGAAACCAGGCCCCCAGACTTTGTGATTTTCCAAGGCCAGGAGGGGAAGGAAAAAGTTAAAGGCAGATG...
GAGGGGCCTGCAGTCCAGGAGGAGCAGAGGAAAGAAACTGGGGCCAGGCAGACACCTTCATCTGAGGAGATGCATTCCCACAGCCATTCTCCAACCTGCAGACAAGAGAGAAGGGAGGTGAGTGAGCCCAGGTATCCCTGGGGCTGCAGCAGGGAGGCCCTTGGGGCTCTGGATTCTCCCCGGCCCTCACCAGTGGTTCAGAGGTAAGCACGACCAGGTAAGTATCACATAAAGAGGGGAGAACACGGTCTTGAAACCAGGCCCCCAGACTTTGTGATTTTCCAAGGCCAGGAGGGGAAGGAAAAAGTTAAAGGCAGATG...
Task1_train_42097
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GAATTCTGTCCCATCTCACTGCCCATGCCCCTGCAGGGATCTCCACTACCTCCCAGTATGAAGCTATAGATTCACTAGGTCTCCCAGAAATGCAGCTTCGGCTTAAACCCTTCTCCTCTCCTCCTCAGCCCTGACTAACCCTCCCTCTCCCACCCAAACTCCCCACCGTGTCAGCTTCCTCTCCCGCCCTCTCCTGCTCCTCCTCAACCCTGACCCCACCTTACCCACCTTCATGTTTCTTTTCAAGCTCGCACAGCCGTGCAGGCTCTAGCAAAAGGCTGGGGGGTCCCCAGCGACCCCCATCAGCTTTGATAAGGGGA...
GAATTCTGTCCCATCTCACTGCCCATGCCCCTGCAGGGATCTCCACTACCTCCCAGTATGAAGCTATAGATTCACTAGGTCTCCCAGAAATGCAGCTTCGGCTTAAACCCTTCTCCTCTCCTCCTCAGCCCTGACTAACCCTCCCTCTCCCACCCAAACTCCCCACCGTGTCAGCTTCCTCTCCCGCCCTCTCCTGCTCCTCCTCAACCCTGACCCCACCTTACCCACCTTCATGTTTCTTTTCAAGCTCGCACAGCCGTGCAGGCTCTAGCAAAAGGCTGGGGGGTCCCCAGCGACCCCCATCAGCTTTGATAAGGGGA...
Task1_train_42098
This genomic variant is located on Chromosome 12. Can you determine its pathogenicity and name any linked disease?
Benign
CGGCGCACTGCTCACTTCTGGGGGGCCCTTTCAGAGGCACTTTTAAAGCAAATAAAACATTTATTGTTCAGATTTTTTTCCATTTTCTTCCTTTTTACAAAAACATGCATACATACACAGGGTATGGTGGGTCCTAGGAAAGACACACACACACGCCTCACTCACACACACGCTCACACACACGCCTCACTCACACACATGCTCACACACATTTTCCTTCTTGACCCCAGGCCTGGACCCCCAAAAGCCTTGAAGACTTTGCCAGAGCAGCCTCCCCTCCTCCATGTCTGTATCTTCTCTCCCACCCCTTCCCCCTCAGT...
CGGCGCACTGCTCACTTCTGGGGGGCCCTTTCAGAGGCACTTTTAAAGCAAATAAAACATTTATTGTTCAGATTTTTTTCCATTTTCTTCCTTTTTACAAAAACATGCATACATACACAGGGTATGGTGGGTCCTAGGAAAGACACACACACACGCCTCACTCACACACACGCTCACACACACGCCTCACTCACACACATGCTCACACACATTTTCCTTCTTGACCCCAGGCCTGGACCCCCAAAAGCCTTGAAGACTTTGCCAGAGCAGCCTCCCCTCCTCCATGTCTGTATCTTCTCTCCCACCCCTTCCCCCTCAGT...
Task1_train_42099
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
AGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTTGTTTATTTTATGAGAGCATGGTTCCATGAAGGGCAGCAGTGGTGACCCATCAGGCTCAAAAATCTCAGCTTTTTTCATCAGACTGAAAAAGTGTTT...
AGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTTGTTTATTTTATGAGAGCATGGTTCCATGAAGGGCAGCAGTGGTGACCCATCAGGCTCAAAAATCTCAGCTTTTTTCATCAGACTGAAAAAGTGTTT...