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 |
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Task1_train_17900 | A variant was discovered on Chromosome 12, affecting KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Epidermolysis bullosa simplex | TTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGT... | TTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGT... |
Task1_train_17901 | This variant impacts the gene KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epidermolysis bullosa simplex | TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTC... | TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTC... |
Task1_train_17902 | This alteration occurs within gene LOC126861526, KRT5 (BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265| keratin 5) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Epidermolysis bullosa simplex | TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTC... | TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTC... |
Task1_train_17903 | The variant affects gene KRT5 (keratin 5), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | AGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACC... | AGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACC... |
Task1_train_17904 | Given a variant located on Chromosome 12 and affecting KRT5 (keratin 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | ACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTC... | ACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTC... |
Task1_train_17905 | Located on Chromosome 12, this mutation impacts KRT5 (keratin 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACT... | GGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACT... |
Task1_train_17906 | The gene KRT5 (keratin 5) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Epidermolysis bullosa simplex 2A, generalized severe | GAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGA... | GAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGA... |
Task1_train_17907 | A genetic alteration is present in KRT5 (keratin 5) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTC... | CATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTC... |
Task1_train_17908 | Assess the clinical impact of this variant on gene KRT5 (keratin 5), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Epidermolysis bullosa simplex | ATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAG... | ATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAG... |
Task1_train_17909 | The gene KRT5 (keratin 5), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATA... | GACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATA... |
Task1_train_17910 | This variant affects the gene KRT5 (keratin 5) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epidermolysis bullosa simplex | CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAG... | CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAG... |
Task1_train_17911 | Located on Chromosome 12, this mutation impacts KRT5 (keratin 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAG... | CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAG... |
Task1_train_17912 | With a mutation on Chromosome 12 in gene KRT5 (keratin 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa simplex 1C, localized | TTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTC... | TTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTC... |
Task1_train_17913 | Gene KRT5 (keratin 5), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCAC... | TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCAC... |
Task1_train_17914 | Consider this mutation in KRT5 (keratin 5) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCAC... | TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCAC... |
Task1_train_17915 | A change on Chromosome 12 affects gene KRT5 (keratin 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Epidermolysis bullosa simplex with mottled pigmentation | AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGC... | AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGC... |
Task1_train_17916 | A variant affecting Chromosome 12, within the gene KRT5 (keratin 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epidermolysis bullosa simplex | AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGC... | AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGC... |
Task1_train_17917 | Chromosome 12 houses a mutation in gene KRT5 (keratin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Epidermolysis bullosa simplex 2B, generalized intermediate | GCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGT... | GCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGT... |
Task1_train_17918 | A mutation found in KRT5 (keratin 5) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATT... | CTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATT... |
Task1_train_17919 | The following genetic variant occurs in KRT71 (keratin 71) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypotrichosis 13 | AAGAAAAGTCTGCTCTTCATTTCAGGGCATGTCAGAGCTCAGTAAGGCTTGGGCCAAGGGCTTCTAGGTATTTTAAATGCCTGGAGCAGGCACCAGCTTCATCTTTGCTTATAGCCCCTCCTCTCCCTCCTTGGTCCTGCTCCCCAGAACCATCTTCTCTGCAACAAGCATGGCACATGGAACATGATGGACAGATGGAGCTCCTGATCCCATTGTAGCCCCTCACTGAGGCAGGAAACTGGCCAGAAGGAGATGTCCATACACACCTCTTGTTTGGTTTTTGGGGATGGGGAGCACAGTTTTTAAAATGTGACTTCCCT... | AAGAAAAGTCTGCTCTTCATTTCAGGGCATGTCAGAGCTCAGTAAGGCTTGGGCCAAGGGCTTCTAGGTATTTTAAATGCCTGGAGCAGGCACCAGCTTCATCTTTGCTTATAGCCCCTCCTCTCCCTCCTTGGTCCTGCTCCCCAGAACCATCTTCTCTGCAACAAGCATGGCACATGGAACATGATGGACAGATGGAGCTCCTGATCCCATTGTAGCCCCTCACTGAGGCAGGAAACTGGCCAGAAGGAGATGTCCATACACACCTCTTGTTTGGTTTTTGGGGATGGGGAGCACAGTTTTTAAAATGTGACTTCCCT... |
Task1_train_17920 | A variant was discovered in gene KRT74 (keratin 74), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypotrichosis 3 | AGCTAGACTCTGCCGGCCACAGCTGAGGGACTTAGAAATCCACCCAGCCCCACTGCAGATTAAGCATCTCTAATCCAAAAGTCTGAAATCCAAAGTGCTCCAAAACTTTTGGAGCATTTTATTTAAAATTTGTACAAAATTATCTTTAGCCTACGCAGAAGGTATATATGAAACATAAATGAAGTTCATGTTTTGATTTGGGTTCCATCCCCGAAGTATCTCATTATGCACATGCAAACATTTCAAAATCCAAAGTCAGGAATGTTTCTGGTCCCAAGAATTTTGGATAAGGTATACCCAATCTGTATTGACTTTGGAAA... | AGCTAGACTCTGCCGGCCACAGCTGAGGGACTTAGAAATCCACCCAGCCCCACTGCAGATTAAGCATCTCTAATCCAAAAGTCTGAAATCCAAAGTGCTCCAAAACTTTTGGAGCATTTTATTTAAAATTTGTACAAAATTATCTTTAGCCTACGCAGAAGGTATATATGAAACATAAATGAAGTTCATGTTTTGATTTGGGTTCCATCCCCGAAGTATCTCATTATGCACATGCAAACATTTCAAAATCCAAAGTCAGGAATGTTTCTGGTCCCAAGAATTTTGGATAAGGTATACCCAATCTGTATTGACTTTGGAAA... |
Task1_train_17921 | This genomic variant is located on Chromosome 12, within the KRT74 (keratin 74) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant wooly hair | TCTCCTTTTGGTATCTCCCTGGAAGAGTCGGGAAGGAGGCAGGGTGAGGGTGGGGGGACAGGAGTGTCCTTACTGCATCATACAGACACTTGAGGAACTTGATTTCTTTGTCCAGTGAGTCCACTTTGGCCTGAAGCTCCACCTTGACTGCGTAGGCTGCATCTGCATCCTGCCAAGAGGCCCCAGAGTCATTGGGGGATGCAACCCTCATCCCACAGCTGCCCTGCCCAACTCCTGCCTCAAAGCCACCTGATTTTCTATTTTCTACCCACAAAGGAAAGCTCACTCAATATCAATTTCTTCTCAGGCTGCCTGAAGCT... | TCTCCTTTTGGTATCTCCCTGGAAGAGTCGGGAAGGAGGCAGGGTGAGGGTGGGGGGACAGGAGTGTCCTTACTGCATCATACAGACACTTGAGGAACTTGATTTCTTTGTCCAGTGAGTCCACTTTGGCCTGAAGCTCCACCTTGACTGCGTAGGCTGCATCTGCATCCTGCCAAGAGGCCCCAGAGTCATTGGGGGATGCAACCCTCATCCCACAGCTGCCCTGCCCAACTCCTGCCTCAAAGCCACCTGATTTTCTATTTTCTACCCACAAAGGAAAGCTCACTCAATATCAATTTCTTCTCAGGCTGCCTGAAGCT... |
Task1_train_17922 | A variant on Chromosome 12 in gene KRT2 (keratin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ichthyosis bullosa of Siemens | GGTCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTT... | GGTCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTT... |
Task1_train_17923 | This sequence variant lies in KRT2 (keratin 2) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ichthyosis bullosa of Siemens | TCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTA... | TCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTA... |
Task1_train_17924 | A mutation on Chromosome 12 affecting KRT2 (keratin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ichthyosis bullosa of Siemens | AAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGA... | AAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGA... |
Task1_train_17925 | Given a variant located on Chromosome 12 and affecting KRT2 (keratin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ichthyosis bullosa of Siemens | ATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGC... | ATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGC... |
Task1_train_17926 | The gene KRT2 (keratin 2) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | ACCTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACAC... | ACCTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACAC... |
Task1_train_17927 | Here is a genetic alteration in KRT2 (keratin 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ichthyosis bullosa of Siemens | CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAA... | CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAA... |
Task1_train_17928 | Here’s a variant in KRT2 (keratin 2) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ichthyosis bullosa of Siemens | CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAA... | CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAA... |
Task1_train_17929 | A change on Chromosome 12 affects gene KRT2 (keratin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ichthyosis bullosa of Siemens | AGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGC... | AGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGC... |
Task1_train_17930 | This sequence variant lies in KRT1 (keratin 1) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | AAAGAGAAGGGAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGAT... | AAAGAGAAGGGAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGAT... |
Task1_train_17931 | The gene KRT1 (keratin 1) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ichthyosis, annular epidermolytic, 2 | GAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGG... | GAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGG... |
Task1_train_17932 | A mutation on Chromosome 12 affecting KRT1 (keratin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGT... | AAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGT... |
Task1_train_17933 | Mutation context: Chromosome 12, Gene KRT1 (keratin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Epidermolytic hyperkeratosis 1 | AATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTG... | AATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTG... |
Task1_train_17934 | This sequence variant lies in KRT1 (keratin 1) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; KRT1-related disorder | TCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGC... | TCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGC... |
Task1_train_17935 | The gene KRT1 (keratin 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epidermolytic ichthyosis | AGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAG... | AGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAG... |
Task1_train_17936 | Mutation context: Chromosome 12, Gene KRT1 (keratin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCA... | CACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCA... |
Task1_train_17937 | This mutation is located in gene KRT1 (keratin 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Epidermolytic ichthyosis | GATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCG... | GATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCG... |
Task1_train_17938 | Gene KRT1 (keratin 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCC... | ACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCC... |
Task1_train_17939 | A variant on Chromosome 12 in gene KRT1 (keratin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACT... | AAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACT... |
Task1_train_17940 | A variant was discovered in gene KRT1 (keratin 1), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Epidermolytic ichthyosis | ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGG... | ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGG... |
Task1_train_17941 | Located on Chromosome 12, this mutation impacts KRT1 (keratin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; KRT1-related disorder | ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGG... | ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGG... |
Task1_train_17942 | This variant impacts the gene KRT1 (keratin 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epidermolytic hyperkeratosis 1 | CATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTAC... | CATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTAC... |
Task1_train_17943 | Located on Chromosome 12, this mutation impacts KRT1 (keratin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAG... | CTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAG... |
Task1_train_17944 | This genomic variant is located on Chromosome 12, within the KRT1 (keratin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Epidermolytic ichthyosis | GCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTT... | GCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTT... |
Task1_train_17945 | Assess the clinical impact of this variant on gene KRT1 (keratin 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Diffuse nonepidermolytic palmoplantar keratoderma | ATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAA... | ATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAA... |
Task1_train_17946 | A mutation on Chromosome 12 affecting KRT3, LOC126861527 (keratin 3| BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Corneal dystrophy, Meesmann, 2 | GTGTCTCAATGGAATGGTGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTC... | GTGTCTCAATGGAATGGTGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTC... |
Task1_train_17947 | A variant on Chromosome 12 in gene KRT3, LOC126861527 (keratin 3| BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Corneal dystrophy, Meesmann, 2 | TGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAAC... | TGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAAC... |
Task1_train_17948 | A sequence alteration has been identified in KRT3, LOC126861527 (keratin 3| BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Corneal dystrophy, Meesmann, 2 | CTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATG... | CTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATG... |
Task1_train_17949 | Here is a genetic alteration in KRT4 (keratin 4) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; White sponge nevus 1 | AGGGTGGCCAAGGCAGAGAGTGCATTCTGCATCTGCAGCAAACTGATTCGAGTCAGACTGCAGAGCAGGAGCTGGGAAATCTTTGGAAGAGGGGAGACTGTGCTGCTCCAGGTACTTGGAATTGGTCCAATATAGAAAAAGGGTGTCCCCAAATCTACCCAGACCCCCACCTCTGACTGTCCTCTCCCCGCTTCTGTAATTAGACAGCTCCCTCCACTCCTGCTCCAGAAGACCTGCTCCACCTCCAACATTCTTCGCCACTCAGGGACAGCACCACAGACATAACCCCAGGCACCCCTGAGGAGCTGGGGAAGTGAGCA... | AGGGTGGCCAAGGCAGAGAGTGCATTCTGCATCTGCAGCAAACTGATTCGAGTCAGACTGCAGAGCAGGAGCTGGGAAATCTTTGGAAGAGGGGAGACTGTGCTGCTCCAGGTACTTGGAATTGGTCCAATATAGAAAAAGGGTGTCCCCAAATCTACCCAGACCCCCACCTCTGACTGTCCTCTCCCCGCTTCTGTAATTAGACAGCTCCCTCCACTCCTGCTCCAGAAGACCTGCTCCACCTCCAACATTCTTCGCCACTCAGGGACAGCACCACAGACATAACCCCAGGCACCCCTGAGGAGCTGGGGAAGTGAGCA... |
Task1_train_17950 | A variant was discovered in gene AAAS (aladin WD repeat nucleoporin), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Achalasia-alacrima syndrome | ACCAAGACACTGAGGTAAGGTGGCCTGGGAGGAGACCCGGAGACCTGTAAGAACCTTGGGTGGGGGGAAAATGGGAGCATTTGCTCCTCCTAAGCCCTAGCAAATTCCAAGTTTGGGCCAGCATCATGGTTCTAATTCTCATCATTCCCAGGCAGGGTTCAAGCGTGCAATGGATCTGGTTCAAGAGGAGTTTCTGCAGAGATTAGATTTCTACCAACACAGCTGGCTGCCAGCCCGGGCCTTGGTGGAAGAGGCCCTTGCCCAGCGATTCCAGGTATAGGCCTTGGAGGAGGCATTATGGCTTGAGGATTACTGACTGC... | ACCAAGACACTGAGGTAAGGTGGCCTGGGAGGAGACCCGGAGACCTGTAAGAACCTTGGGTGGGGGGAAAATGGGAGCATTTGCTCCTCCTAAGCCCTAGCAAATTCCAAGTTTGGGCCAGCATCATGGTTCTAATTCTCATCATTCCCAGGCAGGGTTCAAGCGTGCAATGGATCTGGTTCAAGAGGAGTTTCTGCAGAGATTAGATTTCTACCAACACAGCTGGCTGCCAGCCCGGGCCTTGGTGGAAGAGGCCCTTGCCCAGCGATTCCAGGTATAGGCCTTGGAGGAGGCATTATGGCTTGAGGATTACTGACTGC... |
Task1_train_17951 | Given this context: Chromosome 12, gene AAAS (aladin WD repeat nucleoporin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glucocorticoid deficiency with achalasia | AAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCTCAGCCTTGCTTCCCAAATCATTTGAAACCATAGTTTCTAGGATTAAATAACGTGACCAAATTCACAAGTGGCTAAAAAGTGACAGAACAGGGCCTTAACCCAAAGTCCATGCTTTTTTCCCCTACTGTACCCCACTGCAACTCCCTGGAAAAGACAGACTGGTAACTGAGTGGAAAACAAAAGGAAA... | AAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCTCAGCCTTGCTTCCCAAATCATTTGAAACCATAGTTTCTAGGATTAAATAACGTGACCAAATTCACAAGTGGCTAAAAAGTGACAGAACAGGGCCTTAACCCAAAGTCCATGCTTTTTTCCCCTACTGTACCCCACTGCAACTCCCTGGAAAAGACAGACTGGTAACTGAGTGGAAAACAAAAGGAAA... |
Task1_train_17952 | An alteration has been detected in AAAS (aladin WD repeat nucleoporin) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTAC... | AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTAC... |
Task1_train_17953 | Here is a variant affecting AAAS (aladin WD repeat nucleoporin) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glucocorticoid deficiency with achalasia | AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTAC... | AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTAC... |
Task1_train_17954 | Gene SP7 (Sp7 transcription factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Osteogenesis imperfecta type 12 | GCGAGCATAGGTGAGCAAACGTGCACAATAGAATATTCGCCCATGAGTAGTCCCCAATTTGCTAAGGAAAAAAAACCATTGGCCCTCGCTTCACCCTTCCTCTTCTCCTTTTCTCACCAGGACAAAATTTCAAATCCAACTTTTATTTATTAAATTAAAAAAAAAAGACTCCACAAAGGGCATGATCCCTTCCATTCCACAATGTTCTCTCCCCAAGCTCCAGCGGCTTTAACCCTTTAACTTGGGGCCTTGAGACAGCAGGGGACAGAAAAGGAGGATCCAACGTTACAGGAAAGGCACGAAGCGGCTTTAAAAGTCAC... | GCGAGCATAGGTGAGCAAACGTGCACAATAGAATATTCGCCCATGAGTAGTCCCCAATTTGCTAAGGAAAAAAAACCATTGGCCCTCGCTTCACCCTTCCTCTTCTCCTTTTCTCACCAGGACAAAATTTCAAATCCAACTTTTATTTATTAAATTAAAAAAAAAAGACTCCACAAAGGGCATGATCCCTTCCATTCCACAATGTTCTCTCCCCAAGCTCCAGCGGCTTTAACCCTTTAACTTGGGGCCTTGAGACAGCAGGGGACAGAAAAGGAGGATCCAACGTTACAGGAAAGGCACGAAGCGGCTTTAAAAGTCAC... |
Task1_train_17955 | Consider a variant on Chromosome 12 in gene AMHR2 (anti-Mullerian hormone receptor type 2). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTGAATTTTGTACGTCTTTCAGGCAGTATAGTGTAATACAAAGAATAGAGCCGGCCGGGTGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGCGGCCGAGGCGGAGGGATCACGAGGTTAAGAGATCGACCCCTTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGCCGCCTGTAGTCCCAGCTGCTCGGGAGGC... | TTGAATTTTGTACGTCTTTCAGGCAGTATAGTGTAATACAAAGAATAGAGCCGGCCGGGTGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGCGGCCGAGGCGGAGGGATCACGAGGTTAAGAGATCGACCCCTTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGCCGCCTGTAGTCCCAGCTGCTCGGGAGGC... |
Task1_train_17956 | Consider a variant on Chromosome 12 in gene AMHR2 (anti-Mullerian hormone receptor type 2). Determine its clinical classification and disease relevance. | Pathogenic; Persistent Mullerian duct syndrome | TATGCCCCTTGGCACTCGGTTAATTTTCCTATCTTGGGGTTTACTGCATTCTTTATCTCTTACCTTCCCTGAGCCATCTTGGTGCCTGAACACAGTTCGTGGCCACCGAAGGTGCTCGATGACACTTGTTGAATGAGGGGTTCTATTGCTCCCTTCCCTCCAATTCCCACTTGCCCTCCACCTGCTACTCTGTTATCTACTGGCTCTGCCCGTCTATGTGTACACATGCCTGACACCTCAGACAAGGTGACTCATGAAGGATGCCCCTGACTAGCTTGCCCTGCCTCCTCTGTTACTGTCTTTGCCGCATGTCTTCTGAG... | TATGCCCCTTGGCACTCGGTTAATTTTCCTATCTTGGGGTTTACTGCATTCTTTATCTCTTACCTTCCCTGAGCCATCTTGGTGCCTGAACACAGTTCGTGGCCACCGAAGGTGCTCGATGACACTTGTTGAATGAGGGGTTCTATTGCTCCCTTCCCTCCAATTCCCACTTGCCCTCCACCTGCTACTCTGTTATCTACTGGCTCTGCCCGTCTATGTGTACACATGCCTGACACCTCAGACAAGGTGACTCATGAAGGATGCCCCTGACTAGCTTGCCCTGCCTCCTCTGTTACTGTCTTTGCCGCATGTCTTCTGAG... |
Task1_train_17957 | Mutation context: Chromosome 12, Gene HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Chronic progressive multiple sclerosis | GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAA... | GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAA... |
Task1_train_17958 | This mutation occurs in HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Chronic progressive multiple sclerosis | GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAA... | GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAA... |
Task1_train_17959 | Here is a genetic alteration in HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Chronic progressive multiple sclerosis | CTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCT... | CTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCT... |
Task1_train_17960 | Consider a variant on Chromosome 12 in gene NCKAP1L (NCK associated protein 1 like). Determine its clinical classification and disease relevance. | Pathogenic; Immunodeficiency 72 with autoinflammation | ATGGCTAATATCATTGAACATCTTTTCATGTGCTTATTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCAC... | ATGGCTAATATCATTGAACATCTTTTCATGTGCTTATTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCAC... |
Task1_train_17961 | With a mutation on Chromosome 12 in gene NCKAP1L (NCK associated protein 1 like), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Immunodeficiency 72 with autoinflammation | TTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCACCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAA... | TTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCACCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAA... |
Task1_train_17962 | This mutation is located in gene BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pigmentary retinal dystrophy | TACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAGGTTAAGGAGGAAGTAGGGTGGTCCCAGAAACCCCATCTATAGCCCCAGTGTCAGAAAAGGTAGAGAAAGAAAGAAAAGCAGTTGGTGGGTCCAAGTAAAGCCTTTTCCAGGAGATGAATAAAACGTATTCCCCAGACTGGAAGCCATACTCTACCCATTCTGATTCCTGGGCTCCCACCTCCTCTCCCCCTTCCCAGGAAATTGGGGATGTGGAGAACTGGGCTCGGAGCATCGAGCTGGACATGCGCACCATTGCC... | TACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAGGTTAAGGAGGAAGTAGGGTGGTCCCAGAAACCCCATCTATAGCCCCAGTGTCAGAAAAGGTAGAGAAAGAAAGAAAAGCAGTTGGTGGGTCCAAGTAAAGCCTTTTCCAGGAGATGAATAAAACGTATTCCCCAGACTGGAAGCCATACTCTACCCATTCTGATTCCTGGGCTCCCACCTCCTCTCCCCCTTCCCAGGAAATTGGGGATGTGGAGAACTGGGCTCGGAGCATCGAGCTGGACATGCGCACCATTGCC... |
Task1_train_17963 | This sequence variant lies in BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pigmentary retinal dystrophy | GTGTGTTTCAGAGAGCTACTAGCTCCAGTGTCGGGGGTGGGAGTGGAAGGTTCAAAGGTGGTTTCCCTGAGGGACAGGTACCTTTTGGGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCA... | GTGTGTTTCAGAGAGCTACTAGCTCCAGTGTCGGGGGTGGGAGTGGAAGGTTCAAAGGTGGTTTCCCTGAGGGACAGGTACCTTTTGGGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCA... |
Task1_train_17964 | A variant found in Chromosome 12 affects BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pigmentary retinal dystrophy | GGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAG... | GGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAG... |
Task1_train_17965 | Given this context: Chromosome 12, gene BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fundus albipunctatus, autosomal recessive | TGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGAC... | TGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGAC... |
Task1_train_17966 | The variant affects gene BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pigmentary retinal dystrophy | TGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCC... | TGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCC... |
Task1_train_17967 | This alteration in BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pigmentary retinal dystrophy | ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAG... | ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAG... |
Task1_train_17968 | A mutation on Chromosome 12 affecting BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital stationary night blindness | ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAG... | ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAG... |
Task1_train_17969 | A mutation on Chromosome 12 affecting BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Fundus albipunctatus, autosomal recessive | CTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCT... | CTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCT... |
Task1_train_17970 | A variant on Chromosome 12 in gene BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCAT... | TTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCAT... |
Task1_train_17971 | A change on Chromosome 12 affects gene SUOX (sulfite oxidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Sulfocysteinuria | GACACAAGAATCACTTAAACCCAGGAGGCTAAGTCTGCAGTGAGCCAAGATCAAGATCAGGCCACTGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAATTGTCAGAATAAAGGAATCAGTCCTAGTAAACTCCACAGGCAACCCAGGCTGTGACCCATGTTCTTGTAGTTACCACAGAGTTCACAGTGACGCAGTCTTCATGCACAGTGGAGATGAAATCTGCTAATCTGCTACCTTCGCTTCCCAGTGGCCAACACCGTGGGTTGGGTCAGGGTGAGCTCAAGTGATTTCTTCTTATT... | GACACAAGAATCACTTAAACCCAGGAGGCTAAGTCTGCAGTGAGCCAAGATCAAGATCAGGCCACTGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAATTGTCAGAATAAAGGAATCAGTCCTAGTAAACTCCACAGGCAACCCAGGCTGTGACCCATGTTCTTGTAGTTACCACAGAGTTCACAGTGACGCAGTCTTCATGCACAGTGGAGATGAAATCTGCTAATCTGCTACCTTCGCTTCCCAGTGGCCAACACCGTGGGTTGGGTCAGGGTGAGCTCAAGTGATTTCTTCTTATT... |
Task1_train_17972 | Assess the clinical impact of this variant on gene RPS26 (ribosomal protein S26), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... |
Task1_train_17973 | A mutation in RPS26 (ribosomal protein S26), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Diamond-Blackfan anemia 10 | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... |
Task1_train_17974 | Given this context: Chromosome 12, gene RPS26 (ribosomal protein S26) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Diamond-Blackfan anemia | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... |
Task1_train_17975 | This sequence variant lies in RPS26 (ribosomal protein S26) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Diamond-Blackfan anemia 10 | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... | AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTT... |
Task1_train_17976 | Here’s a variant in RPS26 (ribosomal protein S26) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Diamond-Blackfan anemia 10 | ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTG... | ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTG... |
Task1_train_17977 | A mutation on Chromosome 12 affecting RPS26 (ribosomal protein S26) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Diamond-Blackfan anemia | ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTG... | ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTG... |
Task1_train_17978 | Consider this mutation in RPS26 (ribosomal protein S26) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Diamond-Blackfan anemia 10 | ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTG... | ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTG... |
Task1_train_17979 | A mutation on Chromosome 12 affecting RPS26 (ribosomal protein S26) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Diamond-Blackfan anemia 10 | CATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACC... | CATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACC... |
Task1_train_17980 | This sequence change occurs on Chromosome 12, altering SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Coffin-Siris syndrome 8 | TCATTTGCCTCTGAGCTTTAGCTTTATTCTATGATCTCAGGACTTAGAAACTTGATGTGCAATCTCTTTATTTTTTTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCAGCATGCCGGGCTAATTTTTTGTATTTTTTTATTCTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTTGATCTCGTGATCCACCTGCCTC... | TCATTTGCCTCTGAGCTTTAGCTTTATTCTATGATCTCAGGACTTAGAAACTTGATGTGCAATCTCTTTATTTTTTTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCAGCATGCCGGGCTAATTTTTTGTATTTTTTTATTCTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTTGATCTCGTGATCCACCTGCCTC... |
Task1_train_17981 | This mutation occurs in SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GTGAGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCAC... | GTGAGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCAC... |
Task1_train_17982 | Gene SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; SMARCC2-related BAFopathy | AGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGC... | AGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGC... |
Task1_train_17983 | Consider this mutation in SLC39A5 (solute carrier family 39 member 5) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Myopia 24, autosomal dominant | TAGAGAAGCAGCCCAGGGTAGGATCTGGATGGTCACCTGGAGAGGAGACCTGCAGGGAATGGATGGCTGTCTTCATCCAGAAAGACAGAGAATATATTCCACTTACACCAGAGGGCAGACAAAGCTGCCTAACCCTGATGGAGGTCCAGTGAGTGCCCATTGCAGGAAGCATTCAAGCTGAGGCTGGATGAACATCGACAGGGCTGTTGAGAGGGAGATTAGATGGCATTTCAGGGTCTTTTCCCTTTTAAGATTCTGGCATGGAGAGCTCTAGTTTTCCAACCAGCTTCATTTATCAAATCAACAAAATGATTGAAATG... | TAGAGAAGCAGCCCAGGGTAGGATCTGGATGGTCACCTGGAGAGGAGACCTGCAGGGAATGGATGGCTGTCTTCATCCAGAAAGACAGAGAATATATTCCACTTACACCAGAGGGCAGACAAAGCTGCCTAACCCTGATGGAGGTCCAGTGAGTGCCCATTGCAGGAAGCATTCAAGCTGAGGCTGGATGAACATCGACAGGGCTGTTGAGAGGGAGATTAGATGGCATTTCAGGGTCTTTTCCCTTTTAAGATTCTGGCATGGAGAGCTCTAGTTTTCCAACCAGCTTCATTTATCAAATCAACAAAATGATTGAAATG... |
Task1_train_17984 | Here is a genetic alteration in STAT2 (signal transducer and activator of transcription 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | AGCGCAGTAGAAAGGTGCCAGACATGGTCTTCTTCAGCAGCCGGCGCTCCTGGCTCCGACTCACAAAGCCCATGATGCGTCTGGAGCACAGAGAGCAGCTGTGAGACACCGCCCAACACCCTGCCCCACCAGGCCCCTGCCTCCCTGCTCCCCTTGTATGGAGAAACAGCCCAGGTTTGGAATCCAGGCTTTGGACCAAGCCCTGCCACTTAGCTTTTTTTTATCTTTTACAAGTCACTTCACTTTGCTGACAATAGCCACCTTCCGAGGGTTTGAAGTACGAAGATTCAGTGAGATCACACAGATGAACAGCACTTTTT... | AGCGCAGTAGAAAGGTGCCAGACATGGTCTTCTTCAGCAGCCGGCGCTCCTGGCTCCGACTCACAAAGCCCATGATGCGTCTGGAGCACAGAGAGCAGCTGTGAGACACCGCCCAACACCCTGCCCCACCAGGCCCCTGCCTCCCTGCTCCCCTTGTATGGAGAAACAGCCCAGGTTTGGAATCCAGGCTTTGGACCAAGCCCTGCCACTTAGCTTTTTTTTATCTTTTACAAGTCACTTCACTTTGCTGACAATAGCCACCTTCCGAGGGTTTGAAGTACGAAGATTCAGTGAGATCACACAGATGAACAGCACTTTTT... |
Task1_train_17985 | Located on Chromosome 12, this mutation impacts STAT2 (signal transducer and activator of transcription 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pseudo-TORCH syndrome 3 | TGCCTGGCCTGGTATATTTCTAAAAGACTAAATTATAATAAATTTTTAAATGAGAAAATATTGAAAACAGTAGGTATTTTTCAAGTATGTTGGAGGACACACTAGTGATTTTTCTACAACACAATATAATTACCATAAAATATAGCGTTTCCTGGAAAAAGGTAACAAGAAATTGAAAATAACCTAAATAGCTGAAAATAGGAGTTCATTAATTAAATTATGTTACCACCATATAGGGGACTGTTGTGTGGACATAAGAAATAACATGGATAAATATAATATACTGTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCC... | TGCCTGGCCTGGTATATTTCTAAAAGACTAAATTATAATAAATTTTTAAATGAGAAAATATTGAAAACAGTAGGTATTTTTCAAGTATGTTGGAGGACACACTAGTGATTTTTCTACAACACAATATAATTACCATAAAATATAGCGTTTCCTGGAAAAAGGTAACAAGAAATTGAAAATAACCTAAATAGCTGAAAATAGGAGTTCATTAATTAAATTATGTTACCACCATATAGGGGACTGTTGTGTGGACATAAGAAATAACATGGATAAATATAATATACTGTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCC... |
Task1_train_17986 | A variant was discovered on Chromosome 12, affecting MIP (major intrinsic protein of lens fiber). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CTCAGAAGCCCGGAGGAGCCACCGGCCCTCTGGCGCGGGGCCGCAGCCTTTCCGCCACCAGGCTCAGCTGGACCGGTCCCCGCCTGCGCGAAGAGCGAGGCGGGGCGAGCCGGGCTGGTCCACGTGACTCCGAGCGAACTGGGGCGGAGATTGGTGAAGAAGGAAGGAAAAGGGAAGCGAGTGCAGGGACTGTTTTATGTGAGGTCGATCTAAAAATCACAGCGCTATGAATTTTCTGCTGAATTATAGTAGAATCAAAGTCCGATTAGAGGTGAATTTACAAACATTCTTCCCCTTCTTCTAGTCAAGCGGACTATTCC... | CTCAGAAGCCCGGAGGAGCCACCGGCCCTCTGGCGCGGGGCCGCAGCCTTTCCGCCACCAGGCTCAGCTGGACCGGTCCCCGCCTGCGCGAAGAGCGAGGCGGGGCGAGCCGGGCTGGTCCACGTGACTCCGAGCGAACTGGGGCGGAGATTGGTGAAGAAGGAAGGAAAAGGGAAGCGAGTGCAGGGACTGTTTTATGTGAGGTCGATCTAAAAATCACAGCGCTATGAATTTTCTGCTGAATTATAGTAGAATCAAAGTCCGATTAGAGGTGAATTTACAAACATTCTTCCCCTTCTTCTAGTCAAGCGGACTATTCC... |
Task1_train_17987 | With a mutation on Chromosome 12 in gene MIP (major intrinsic protein of lens fiber), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cataract 15 multiple types | TATCAATTTGCACTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG... | TATCAATTTGCACTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG... |
Task1_train_17988 | Here’s a variant in MIP (major intrinsic protein of lens fiber) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cataract 15 multiple types | CTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTG... | CTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTG... |
Task1_train_17989 | Mutation context: Chromosome 12, Gene MIP (major intrinsic protein of lens fiber). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Persistent hyperplastic primary vitreous | AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCAT... | AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCAT... |
Task1_train_17990 | A variant was discovered on Chromosome 12, affecting MIP (major intrinsic protein of lens fiber). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cataract 15 multiple types | AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCAT... | AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCAT... |
Task1_train_17991 | With a mutation on Chromosome 12 in gene ATP5F1B (ATP synthase F1 subunit beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypermetabolism due to Defect in Mitochondrial Coupling | GGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACGCCCAGCGAACCAAAGTAATTTTACTTAAGCCATCCCCCTTTCTGACCTATCTTTATCATCTCACTCCATATTCTTAGCACTCAAAAGACCCTTCTTACCACCCCTAATACCTGCTGAATAAGCTGACAGATTATCTGGTCTCTCAGCCATGATGGAAGAATTTTTAGTATCATTCTTTTTGTTCTTCATCTTTTATTTTAACTATTTTAATGCCCACTTTTAGAATTAAAAACAAGAGGCTGGGGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGC... | GGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACGCCCAGCGAACCAAAGTAATTTTACTTAAGCCATCCCCCTTTCTGACCTATCTTTATCATCTCACTCCATATTCTTAGCACTCAAAAGACCCTTCTTACCACCCCTAATACCTGCTGAATAAGCTGACAGATTATCTGGTCTCTCAGCCATGATGGAAGAATTTTTAGTATCATTCTTTTTGTTCTTCATCTTTTATTTTAACTATTTTAATGCCCACTTTTAGAATTAAAAACAAGAGGCTGGGGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGC... |
Task1_train_17992 | This genomic variant is located on Chromosome 12, within the PRIM1 (DNA primase subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCT... | AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCT... |
Task1_train_17993 | Here’s a variant in PRIM1 (DNA primase subunit 1) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Microcephalic primordial dwarfism | AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCT... | AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCT... |
Task1_train_17994 | This alteration in SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lamellar ichthyosis | GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTG... | GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTG... |
Task1_train_17995 | This variant affects the gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ichthyosis, congenital, autosomal recessive 13 | GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTG... | GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTG... |
Task1_train_17996 | A variant on Chromosome 12 in gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; SDR9C7-related disorder | GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTG... | GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTG... |
Task1_train_17997 | Gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ichthyosis, congenital, autosomal recessive 13 | CCCCCTACCCACCCCAGTTCCCAGTGTTTCTTAGACCAGGATATTGCCAAGTGGCTTAGGCAAAATAATGGTCCCCCAAAGATGTCCCCATCCTCATTATCTCTGGAACCTGTGAATCTGCTGGATTACATGGGAAAGGGGAATTAAGGTTGCAGGTGGAATGGAGGTTGCTAATTAATTGTCCTTAAAGTTAGGGAGGAAGCTAACACGGGAAATTATCCTGGATTAACCTGGTGAGCCCAATATAATCACAAGTCCTAAGTGGAAAGAGGCAGAAACCGGAGAATCAGAGAGCTTGAGAAAAGTGTGAAAAAGACTGG... | CCCCCTACCCACCCCAGTTCCCAGTGTTTCTTAGACCAGGATATTGCCAAGTGGCTTAGGCAAAATAATGGTCCCCCAAAGATGTCCCCATCCTCATTATCTCTGGAACCTGTGAATCTGCTGGATTACATGGGAAAGGGGAATTAAGGTTGCAGGTGGAATGGAGGTTGCTAATTAATTGTCCTTAAAGTTAGGGAGGAAGCTAACACGGGAAATTATCCTGGATTAACCTGGTGAGCCCAATATAATCACAAGTCCTAAGTGGAAAGAGGCAGAAACCGGAGAATCAGAGAGCTTGAGAAAAGTGTGAAAAAGACTGG... |
Task1_train_17998 | A variant affecting Chromosome 12, within the gene TAC3 (tachykinin precursor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypogonadotropic hypogonadism 10 without anosmia | AGCTCCCAGAAACCTTATGTCCTATTCTGCCTGACACCTAACAGGTTGGGAATGCTCCCTCAATGGTAAGATTATGAAAGCTGCAATTATGGGTCCCTCTGAAAGAGCCTGGATGCACAAACAAGCATTAAAAGTAGATTTCCACAATGCACTTGTTTTTGCCATTTGTATAAAATACTATAGCAAAATTGCACTGTAATTATCTTTATGGCCAGTGCATAACGCTGGAGCAGAGTATGTCATCCAGATATAGCTGCTCGTATAATTATCTGGCCGTCGGCAGGACTGAAATAACCATCTAATGAGAGCAAAATGATACA... | AGCTCCCAGAAACCTTATGTCCTATTCTGCCTGACACCTAACAGGTTGGGAATGCTCCCTCAATGGTAAGATTATGAAAGCTGCAATTATGGGTCCCTCTGAAAGAGCCTGGATGCACAAACAAGCATTAAAAGTAGATTTCCACAATGCACTTGTTTTTGCCATTTGTATAAAATACTATAGCAAAATTGCACTGTAATTATCTTTATGGCCAGTGCATAACGCTGGAGCAGAGTATGTCATCCAGATATAGCTGCTCGTATAATTATCTGGCCGTCGGCAGGACTGAAATAACCATCTAATGAGAGCAAAATGATACA... |
Task1_train_17999 | With a mutation on Chromosome 12 in gene LRP1 (LDL receptor related protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Keratosis pilaris | GCTGCAGATTCCTGCCTTGTTTGTTGCCTATGTGAATTTGACCCAAAAAGCCTCGGGGTTCCTCGTGGACCCCACAGCGTTGCAATCCTGACCCTATTAGAGAAGCCCACAGGGTCTGGAAGGAAGGGCAGGGGGAGCCCCAGTCCCCGGGCCTGGGCCCTCATAGTGCACCTGTCCCTCAGCTCGGTGCATCAGCAAAGCGTGGGTGTGTGATGGCGACAATGACTGTGAGGATAACTCGGACGAGGAGAACTGCGAGTCCCTGGCCTGCAGGCCACCCTCGCACCCTTGTGCCAACAACACCTCAGTCTGCCTGCCCC... | GCTGCAGATTCCTGCCTTGTTTGTTGCCTATGTGAATTTGACCCAAAAAGCCTCGGGGTTCCTCGTGGACCCCACAGCGTTGCAATCCTGACCCTATTAGAGAAGCCCACAGGGTCTGGAAGGAAGGGCAGGGGGAGCCCCAGTCCCCGGGCCTGGGCCCTCATAGTGCACCTGTCCCTCAGCTCGGTGCATCAGCAAAGCGTGGGTGTGTGATGGCGACAATGACTGTGAGGATAACTCGGACGAGGAGAACTGCGAGTCCCTGGCCTGCAGGCCACCCTCGCACCCTTGTGCCAACAACACCTCAGTCTGCCTGCCCC... |
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