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_19100 | A mutation found in RNF6 (ring finger protein 6) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Esophageal squamous cell carcinoma, somatic | TGTCTAATAAGTTAGATTGTCAGAGACGCTTCAGTAAATTATCTCTACTTTAAAATTATATCTGAATCCCCTTTCTCTGAGATGAACTTGCCAATATTAAACATTGTGCCATATGCAGTATTAGCCCAAAAGCTTAAATAAGAACCAAACTTGTAGACTGAATATTTTAACCTTAAAATTATATACCTATATATACACCTATGGTATGCTGCATATTAAATTTAACATTTCAAGTAACATATATATAGCAAACATTCAGCCAAATACTCTTTCATGAAAAGATACTGTCCTTAAAATAAAAAGTTAATGAAAAGCTTATT... | TGTCTAATAAGTTAGATTGTCAGAGACGCTTCAGTAAATTATCTCTACTTTAAAATTATATCTGAATCCCCTTTCTCTGAGATGAACTTGCCAATATTAAACATTGTGCCATATGCAGTATTAGCCCAAAAGCTTAAATAAGAACCAAACTTGTAGACTGAATATTTTAACCTTAAAATTATATACCTATATATACACCTATGGTATGCTGCATATTAAATTTAACATTTCAAGTAACATATATATAGCAAACATTCAGCCAAATACTCTTTCATGAAAAGATACTGTCCTTAAAATAAAAAGTTAATGAAAAGCTTATT... |
Task1_train_19101 | This alteration occurs within gene RNF6 (ring finger protein 6) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Esophageal squamous cell carcinoma, somatic | ATTGTGCAGATACAAAAGTGCTTAGCATGACAAAATTACCAAAATAAAAACATTTTAGAGGTTATTTGGTTCTAGCAATATTAACTATTCTGTATTTCTGGATAATTTAACATTTGTATTTTAAATTTTATATAAATTTCTTTTTAACAAGTTTAAAAAAGCACACGAAAAATAGTTCAAACTATATATAATCTGTTATTTTTCATCCTGGTTAGCTAATCACAAATAACTCAGCAAAACAATGCTTGAACATTCAGTTCTACTAAAAAACAGTATTTGAGTAGATCCCATCACCTTACCCATTGTTTGCTATGTTAGAC... | ATTGTGCAGATACAAAAGTGCTTAGCATGACAAAATTACCAAAATAAAAACATTTTAGAGGTTATTTGGTTCTAGCAATATTAACTATTCTGTATTTCTGGATAATTTAACATTTGTATTTTAAATTTTATATAAATTTCTTTTTAACAAGTTTAAAAAAGCACACGAAAAATAGTTCAAACTATATATAATCTGTTATTTTTCATCCTGGTTAGCTAATCACAAATAACTCAGCAAAACAATGCTTGAACATTCAGTTCTACTAAAAAACAGTATTTGAGTAGATCCCATCACCTTACCCATTGTTTGCTATGTTAGAC... |
Task1_train_19102 | Here’s a variant in CDK8, LOC130009416 (cyclin dependent kinase 8| ATAC-STARR-seq lymphoblastoid silent region 5186) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual developmental disorder with hypotonia and behavioral abnormalities | GCTTTGCACTTTGCAAAGAAAAAATTCTAGGCTCCAAGAACACATTAGTAAATGACAATGCAGGATTCAAACCCAGTATAGTAAAATACTCAATACTTATATAGTATGCTAGGTAAAAACAATTTAATTTTACACAGTGGTGAAGTCACTAATTTTCTCCAAGGAAAATTATATAAGAGAAAGCCCTTTGGAGGCTTTTTCACAAGATGATATCATCATCATCATCATTGGTATATGGATCTTTTTGAGATAAACATGTTTATTCATTCATTAATTTAACAAGTGTTTACTGTGCATCATTATCAAGGCATGACACTAGG... | GCTTTGCACTTTGCAAAGAAAAAATTCTAGGCTCCAAGAACACATTAGTAAATGACAATGCAGGATTCAAACCCAGTATAGTAAAATACTCAATACTTATATAGTATGCTAGGTAAAAACAATTTAATTTTACACAGTGGTGAAGTCACTAATTTTCTCCAAGGAAAATTATATAAGAGAAAGCCCTTTGGAGGCTTTTTCACAAGATGATATCATCATCATCATCATTGGTATATGGATCTTTTTGAGATAAACATGTTTATTCATTCATTAATTTAACAAGTGTTTACTGTGCATCATTATCAAGGCATGACACTAGG... |
Task1_train_19103 | This variant impacts the gene CDK8, LOC130009416 (cyclin dependent kinase 8| ATAC-STARR-seq lymphoblastoid silent region 5186) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Intellectual developmental disorder with hypotonia and behavioral abnormalities | TTGCACTTTGCAAAGAAAAAATTCTAGGCTCCAAGAACACATTAGTAAATGACAATGCAGGATTCAAACCCAGTATAGTAAAATACTCAATACTTATATAGTATGCTAGGTAAAAACAATTTAATTTTACACAGTGGTGAAGTCACTAATTTTCTCCAAGGAAAATTATATAAGAGAAAGCCCTTTGGAGGCTTTTTCACAAGATGATATCATCATCATCATCATTGGTATATGGATCTTTTTGAGATAAACATGTTTATTCATTCATTAATTTAACAAGTGTTTACTGTGCATCATTATCAAGGCATGACACTAGGTTT... | TTGCACTTTGCAAAGAAAAAATTCTAGGCTCCAAGAACACATTAGTAAATGACAATGCAGGATTCAAACCCAGTATAGTAAAATACTCAATACTTATATAGTATGCTAGGTAAAAACAATTTAATTTTACACAGTGGTGAAGTCACTAATTTTCTCCAAGGAAAATTATATAAGAGAAAGCCCTTTGGAGGCTTTTTCACAAGATGATATCATCATCATCATCATTGGTATATGGATCTTTTTGAGATAAACATGTTTATTCATTCATTAATTTAACAAGTGTTTACTGTGCATCATTATCAAGGCATGACACTAGGTTT... |
Task1_train_19104 | Given this context: Chromosome 13, gene CDK8, LOC130009416 (cyclin dependent kinase 8| ATAC-STARR-seq lymphoblastoid silent region 5186) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TTGCACTTTGCAAAGAAAAAATTCTAGGCTCCAAGAACACATTAGTAAATGACAATGCAGGATTCAAACCCAGTATAGTAAAATACTCAATACTTATATAGTATGCTAGGTAAAAACAATTTAATTTTACACAGTGGTGAAGTCACTAATTTTCTCCAAGGAAAATTATATAAGAGAAAGCCCTTTGGAGGCTTTTTCACAAGATGATATCATCATCATCATCATTGGTATATGGATCTTTTTGAGATAAACATGTTTATTCATTCATTAATTTAACAAGTGTTTACTGTGCATCATTATCAAGGCATGACACTAGGTTT... | TTGCACTTTGCAAAGAAAAAATTCTAGGCTCCAAGAACACATTAGTAAATGACAATGCAGGATTCAAACCCAGTATAGTAAAATACTCAATACTTATATAGTATGCTAGGTAAAAACAATTTAATTTTACACAGTGGTGAAGTCACTAATTTTCTCCAAGGAAAATTATATAAGAGAAAGCCCTTTGGAGGCTTTTTCACAAGATGATATCATCATCATCATCATTGGTATATGGATCTTTTTGAGATAAACATGTTTATTCATTCATTAATTTAACAAGTGTTTACTGTGCATCATTATCAAGGCATGACACTAGGTTT... |
Task1_train_19105 | The gene CDK8 (cyclin dependent kinase 8) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Complex neurodevelopmental disorder with or without congenital anomalies | GGAGCTATCACCTACCTGTTCCCTCAAAACTTTTCCTCCTACCTGGTTTTTAATTTCAGTGAATAATGCTGTCATTACTTTGTAGCCTGTGGCAGAAATCATTGTCTTTAACTTCTTCTTCCTTACCCACAGTAGTCAATCATGAAGGACCCTACTTCTTATCTGTCTGTTCTCTATAGTAACCACCATTCTGCAATAGCCATCATCATCTCTCACTGAATAATTTTAATACTAATTACTTGTAACTGTTCTGTCTGCCTCCTTTCCTTATTTACTCCCACTAAGCATTCACAAGGCAGCCAAAGATACATTTTCCAGAT... | GGAGCTATCACCTACCTGTTCCCTCAAAACTTTTCCTCCTACCTGGTTTTTAATTTCAGTGAATAATGCTGTCATTACTTTGTAGCCTGTGGCAGAAATCATTGTCTTTAACTTCTTCTTCCTTACCCACAGTAGTCAATCATGAAGGACCCTACTTCTTATCTGTCTGTTCTCTATAGTAACCACCATTCTGCAATAGCCATCATCATCTCTCACTGAATAATTTTAATACTAATTACTTGTAACTGTTCTGTCTGCCTCCTTTCCTTATTTACTCCCACTAAGCATTCACAAGGCAGCCAAAGATACATTTTCCAGAT... |
Task1_train_19106 | Consider this mutation in CDK8 (cyclin dependent kinase 8) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual developmental disorder with hypotonia and behavioral abnormalities | GGAGCTATCACCTACCTGTTCCCTCAAAACTTTTCCTCCTACCTGGTTTTTAATTTCAGTGAATAATGCTGTCATTACTTTGTAGCCTGTGGCAGAAATCATTGTCTTTAACTTCTTCTTCCTTACCCACAGTAGTCAATCATGAAGGACCCTACTTCTTATCTGTCTGTTCTCTATAGTAACCACCATTCTGCAATAGCCATCATCATCTCTCACTGAATAATTTTAATACTAATTACTTGTAACTGTTCTGTCTGCCTCCTTTCCTTATTTACTCCCACTAAGCATTCACAAGGCAGCCAAAGATACATTTTCCAGAT... | GGAGCTATCACCTACCTGTTCCCTCAAAACTTTTCCTCCTACCTGGTTTTTAATTTCAGTGAATAATGCTGTCATTACTTTGTAGCCTGTGGCAGAAATCATTGTCTTTAACTTCTTCTTCCTTACCCACAGTAGTCAATCATGAAGGACCCTACTTCTTATCTGTCTGTTCTCTATAGTAACCACCATTCTGCAATAGCCATCATCATCTCTCACTGAATAATTTTAATACTAATTACTTGTAACTGTTCTGTCTGCCTCCTTTCCTTATTTACTCCCACTAAGCATTCACAAGGCAGCCAAAGATACATTTTCCAGAT... |
Task1_train_19107 | Consider this mutation in CDK8 (cyclin dependent kinase 8) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual developmental disorder with hypotonia and behavioral abnormalities | TGTTCGCTTGAGTCAGATTAGATGAGCACATATGCCTCTGTTGACCTCGTCTAGATTAGGAGTTGTTAATACAAACTCTAGGGAAAACCATGAGGCTGGATAGATACAGAACCTTAAGTTCTAACAAGACTGTCTCGTAGTAGGCCTTTCCCTGATGGGAAAAAATAATGGGCATTCTGTACATATTTTCTGATAGCTCTATTTTCTTACATATCAAAGCAAAATTTTACCCACTTCTGGTCTGATAATCTGTAAGGATAAAACTAAGTTTATTTAATCTGATTTTTTTTCATTGTCATTTCCAAGTTGTGTTTGTCACA... | TGTTCGCTTGAGTCAGATTAGATGAGCACATATGCCTCTGTTGACCTCGTCTAGATTAGGAGTTGTTAATACAAACTCTAGGGAAAACCATGAGGCTGGATAGATACAGAACCTTAAGTTCTAACAAGACTGTCTCGTAGTAGGCCTTTCCCTGATGGGAAAAAATAATGGGCATTCTGTACATATTTTCTGATAGCTCTATTTTCTTACATATCAAAGCAAAATTTTACCCACTTCTGGTCTGATAATCTGTAAGGATAAAACTAAGTTTATTTAATCTGATTTTTTTTCATTGTCATTTCCAAGTTGTGTTTGTCACA... |
Task1_train_19108 | This variant lies on Chromosome 13 and affects the gene CDK8 (cyclin dependent kinase 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual developmental disorder with hypotonia and behavioral abnormalities | AAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCAGTATGCTCAGCTAAGAGCAGTGTAGCTTTAATTATAGCTAAACTACTTACCTTTCATCTTCCTTTACATATTTTATTTTCTTCTTTGGAATTTTTAATAACTAACCAGATGAATTGTTACAGTGTTTATTGGGTGTGCTGTAAGTAGAATTTTAAACATGCAAAGCCATCCATCATCCCTTTTTGTGATCCTACTTAGCTGCCTATGTGGCCATTGATTATCAAAGGTTAGATTTATAGGGTATACCCATATAAAAAGAATAATCA... | AAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCAGTATGCTCAGCTAAGAGCAGTGTAGCTTTAATTATAGCTAAACTACTTACCTTTCATCTTCCTTTACATATTTTATTTTCTTCTTTGGAATTTTTAATAACTAACCAGATGAATTGTTACAGTGTTTATTGGGTGTGCTGTAAGTAGAATTTTAAACATGCAAAGCCATCCATCATCCCTTTTTGTGATCCTACTTAGCTGCCTATGTGGCCATTGATTATCAAAGGTTAGATTTATAGGGTATACCCATATAAAAAGAATAATCA... |
Task1_train_19109 | A variant has been detected on Chromosome 13 in RPL21 (ribosomal protein L21). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypotrichosis 12 | TTAAAATTTTGACCCCACATGGTGATCGGACGAAGGGAAAGTGTTTTGAGGTTGCAACACCAATATTTGCACCAAGAGGAGATACTGTTTTGCGAATTCTAGGGCAGCATGCTTTGAGTGAAGGGAAACATTTAGCCATAGTTCATCATTTTGTCTAGTTTGTGGACGTCAACAGAGTCGAGCAAACTGCAGGTTGCTCTTTATGGTGGATCCTAGTTGCCATGATTTTAATACTCTTACAAACTGTAAAGCATCGTTTTGAAAAGTGCCTTCAGTTTTAAGTGTATGGGGTCCATGCTTAAAATGGATTCCAAACTCAG... | TTAAAATTTTGACCCCACATGGTGATCGGACGAAGGGAAAGTGTTTTGAGGTTGCAACACCAATATTTGCACCAAGAGGAGATACTGTTTTGCGAATTCTAGGGCAGCATGCTTTGAGTGAAGGGAAACATTTAGCCATAGTTCATCATTTTGTCTAGTTTGTGGACGTCAACAGAGTCGAGCAAACTGCAGGTTGCTCTTTATGGTGGATCCTAGTTGCCATGATTTTAATACTCTTACAAACTGTAAAGCATCGTTTTGAAAAGTGCCTTCAGTTTTAAGTGTATGGGGTCCATGCTTAAAATGGATTCCAAACTCAG... |
Task1_train_19110 | A variant on Chromosome 13 in gene POLR1D (RNA polymerase I and III subunit D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Treacher Collins syndrome 2 | AACGTAGTTGCGCTGGACAGCTGGAGTCGGGCAGGGTCGGGGCCAGCGGCGAGGGGACAAGAAGGGCCGATTCGAGAGGAAGCGCACCTGAGGGAGCACAGCGAAGGCCGGGACGCAGGGAGCTGGATGGAGAGCGAGCCTGGGCGGCGAAAGGTTGCCGAGGCGGGGGCTGGGCGCCTGGGAACAAAGGTGAGGGCGGGTTCCGCAGGTGAGGAGGTTTGAGGAGCCACTGGGGAGAAAGGGAAAAGGAAGTCTACAGCCGGAGAGGACGCGCTCTGGGGGTAGAAGGAATCCTAGGACGGAAAGGATAAGGTGGGAAA... | AACGTAGTTGCGCTGGACAGCTGGAGTCGGGCAGGGTCGGGGCCAGCGGCGAGGGGACAAGAAGGGCCGATTCGAGAGGAAGCGCACCTGAGGGAGCACAGCGAAGGCCGGGACGCAGGGAGCTGGATGGAGAGCGAGCCTGGGCGGCGAAAGGTTGCCGAGGCGGGGGCTGGGCGCCTGGGAACAAAGGTGAGGGCGGGTTCCGCAGGTGAGGAGGTTTGAGGAGCCACTGGGGAGAAAGGGAAAAGGAAGTCTACAGCCGGAGAGGACGCGCTCTGGGGGTAGAAGGAATCCTAGGACGGAAAGGATAAGGTGGGAAA... |
Task1_train_19111 | A mutation on Chromosome 13 affecting POLR1D (RNA polymerase I and III subunit D) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Treacher Collins syndrome 2 | GCTGGACAGCTGGAGTCGGGCAGGGTCGGGGCCAGCGGCGAGGGGACAAGAAGGGCCGATTCGAGAGGAAGCGCACCTGAGGGAGCACAGCGAAGGCCGGGACGCAGGGAGCTGGATGGAGAGCGAGCCTGGGCGGCGAAAGGTTGCCGAGGCGGGGGCTGGGCGCCTGGGAACAAAGGTGAGGGCGGGTTCCGCAGGTGAGGAGGTTTGAGGAGCCACTGGGGAGAAAGGGAAAAGGAAGTCTACAGCCGGAGAGGACGCGCTCTGGGGGTAGAAGGAATCCTAGGACGGAAAGGATAAGGTGGGAAACAGTTTTCTCC... | GCTGGACAGCTGGAGTCGGGCAGGGTCGGGGCCAGCGGCGAGGGGACAAGAAGGGCCGATTCGAGAGGAAGCGCACCTGAGGGAGCACAGCGAAGGCCGGGACGCAGGGAGCTGGATGGAGAGCGAGCCTGGGCGGCGAAAGGTTGCCGAGGCGGGGGCTGGGCGCCTGGGAACAAAGGTGAGGGCGGGTTCCGCAGGTGAGGAGGTTTGAGGAGCCACTGGGGAGAAAGGGAAAAGGAAGTCTACAGCCGGAGAGGACGCGCTCTGGGGGTAGAAGGAATCCTAGGACGGAAAGGATAAGGTGGGAAACAGTTTTCTCC... |
Task1_train_19112 | Here is a mutation in PDX1 (pancreatic and duodenal homeobox 1) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pancreatic agenesis 1 | CTCTCGGGGAAGGAGACGACCTCCCCTCTCTTCCCCTGGAAGCCGTCTGCGGGGCCGGCTGCTATCCCCGCGTTCCTCTAGGGGAAACTTCGATGGAGCCGAAATTCAAAAATTGCAAACCCACCTGCCCCTGGGAAGAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCC... | CTCTCGGGGAAGGAGACGACCTCCCCTCTCTTCCCCTGGAAGCCGTCTGCGGGGCCGGCTGCTATCCCCGCGTTCCTCTAGGGGAAACTTCGATGGAGCCGAAATTCAAAAATTGCAAACCCACCTGCCCCTGGGAAGAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCC... |
Task1_train_19113 | Chromosome 13 houses a mutation in gene PDX1 (pancreatic and duodenal homeobox 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Maturity-onset diabetes of the young type 4 | TCTCGGGGAAGGAGACGACCTCCCCTCTCTTCCCCTGGAAGCCGTCTGCGGGGCCGGCTGCTATCCCCGCGTTCCTCTAGGGGAAACTTCGATGGAGCCGAAATTCAAAAATTGCAAACCCACCTGCCCCTGGGAAGAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCCT... | TCTCGGGGAAGGAGACGACCTCCCCTCTCTTCCCCTGGAAGCCGTCTGCGGGGCCGGCTGCTATCCCCGCGTTCCTCTAGGGGAAACTTCGATGGAGCCGAAATTCAAAAATTGCAAACCCACCTGCCCCTGGGAAGAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCCT... |
Task1_train_19114 | The variant affects gene PDX1 (pancreatic and duodenal homeobox 1), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pancreatic agenesis 1 | TCTCGGGGAAGGAGACGACCTCCCCTCTCTTCCCCTGGAAGCCGTCTGCGGGGCCGGCTGCTATCCCCGCGTTCCTCTAGGGGAAACTTCGATGGAGCCGAAATTCAAAAATTGCAAACCCACCTGCCCCTGGGAAGAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCCT... | TCTCGGGGAAGGAGACGACCTCCCCTCTCTTCCCCTGGAAGCCGTCTGCGGGGCCGGCTGCTATCCCCGCGTTCCTCTAGGGGAAACTTCGATGGAGCCGAAATTCAAAAATTGCAAACCCACCTGCCCCTGGGAAGAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCCT... |
Task1_train_19115 | Gene FLT3 (fms related receptor tyrosine kinase 3), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Acute myeloid leukemia | GAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACC... | GAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACC... |
Task1_train_19116 | A variant on Chromosome 13 in gene FLT3 (fms related receptor tyrosine kinase 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Acute myeloid leukemia | AGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCA... | AGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCA... |
Task1_train_19117 | A change on Chromosome 13 affects gene FLT3 (fms related receptor tyrosine kinase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Acute lymphoid leukemia | AGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCA... | AGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCA... |
Task1_train_19118 | A mutation found in FLT3 (fms related receptor tyrosine kinase 3) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Acute myeloid leukemia | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... |
Task1_train_19119 | A variant has been detected on Chromosome 13 in FLT3 (fms related receptor tyrosine kinase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Acute lymphoid leukemia | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... |
Task1_train_19120 | A mutation on Chromosome 13 affecting FLT3 (fms related receptor tyrosine kinase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Acute myeloid leukemia | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... |
Task1_train_19121 | The gene FLT3 (fms related receptor tyrosine kinase 3) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Acute myeloid leukemia | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... | GACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCACACCTGGCTGTACTGATTTTCTTTTACATGGGTTGACGAGTCCTTCACAGCACATGTTTAATCAGCACATGCTTAATCAGCCAAGTAAACCCTCTTTTAAATGTATGCAAACTGATGAGCTATTGATTCATGCAGGCAAGTCTGGTTAATTTGATTAATTAAAGAAATTAATTGTGGTTCCAAATGGAATTCACTTTCCCACATAAGAGACAACCAG... |
Task1_train_19122 | Consider this mutation in B3GLCT (beta 3-glucosyltransferase) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Peters plus syndrome | GGTGAAAAAGAAAACCCCATTTTCTGGGGAGAAATTCAAGCCAGCTGCAGAAATTTGTGTAAGTAACAAGGAGCTGAATGTTCATACCAAGACAATAGGGAAAATGTCTCCAGGGCATGTCAGAGATCTTCACAGCTGCCCCTTTCATCACAGGCCCAGAGGCCTAGGAGTAAAAGTGGTTTCGTGGGCCTGGCCCAGGGCCCCACTGCTCTATGCAGCCTCAGGACTTGGTGCCCTGTGTCCCAGATGCTCCAGCCATGGCTAAAAGGGGCCAAGGTACAGCTTGGCTTTTGCTTCAGAGGGTGCAAACCCCAAGCTTT... | GGTGAAAAAGAAAACCCCATTTTCTGGGGAGAAATTCAAGCCAGCTGCAGAAATTTGTGTAAGTAACAAGGAGCTGAATGTTCATACCAAGACAATAGGGAAAATGTCTCCAGGGCATGTCAGAGATCTTCACAGCTGCCCCTTTCATCACAGGCCCAGAGGCCTAGGAGTAAAAGTGGTTTCGTGGGCCTGGCCCAGGGCCCCACTGCTCTATGCAGCCTCAGGACTTGGTGCCCTGTGTCCCAGATGCTCCAGCCATGGCTAAAAGGGGCCAAGGTACAGCTTGGCTTTTGCTTCAGAGGGTGCAAACCCCAAGCTTT... |
Task1_train_19123 | This gene mutation involves BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary breast ovarian cancer syndrome | TGAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTAT... | TGAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTAT... |
Task1_train_19124 | A mutation on Chromosome 13 affecting BRCA2 (BRCA2 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... |
Task1_train_19125 | A mutation in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... |
Task1_train_19126 | The gene BRCA2 (BRCA2 DNA repair associated) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... |
Task1_train_19127 | With a mutation on Chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... |
Task1_train_19128 | This variant affects the gene BRCA2 (BRCA2 DNA repair associated) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... |
Task1_train_19129 | This sequence change occurs on Chromosome 13, altering BRCA2 (BRCA2 DNA repair associated). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary breast ovarian cancer syndrome | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... |
Task1_train_19130 | This alteration occurs within gene BRCA2 (BRCA2 DNA repair associated) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary breast ovarian cancer syndrome | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... |
Task1_train_19131 | Gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... |
Task1_train_19132 | The gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial cancer of breast | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... |
Task1_train_19133 | A variant affecting Chromosome 13, within the gene BRCA2 (BRCA2 DNA repair associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... | CAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAGAGCCCTCA... |
Task1_train_19134 | A mutation in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary breast ovarian cancer syndrome | AAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGTAAATACCTTGGCATTAGATAATCAAAAGAAACTGAGCAAGCCTCAGTCAATTAATACTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAAAAATAGTCATATAACCCCTCAGATGTTATTTTCCAAGCAGGATTTTAATTCAAACCATAATTTAACACCTAGCCAAAAGGCAGAAATTACAGAACTTTCTACTATATTAGAAG... | AAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGTAAATACCTTGGCATTAGATAATCAAAAGAAACTGAGCAAGCCTCAGTCAATTAATACTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAAAAATAGTCATATAACCCCTCAGATGTTATTTTCCAAGCAGGATTTTAATTCAAACCATAATTTAACACCTAGCCAAAAGGCAGAAATTACAGAACTTTCTACTATATTAGAAG... |
Task1_train_19135 | Gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19136 | Given a variant located on Chromosome 13 and affecting BRCA2 (BRCA2 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19137 | Gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19138 | The gene BRCA2 (BRCA2 DNA repair associated), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary breast ovarian cancer syndrome | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19139 | A genetic alteration is present in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Fanconi anemia complementation group D1 | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19140 | This alteration in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19141 | This is a variant in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Familial cancer of breast | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... | TATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATT... |
Task1_train_19142 | A mutation on Chromosome 13 affecting BRCA2 (BRCA2 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | TAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAAC... | TAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAAC... |
Task1_train_19143 | This is a variant in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | TAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAAC... | TAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAAC... |
Task1_train_19144 | A mutation in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | TAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAAC... | TAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAAC... |
Task1_train_19145 | This variant affects gene BRCA2 (BRCA2 DNA repair associated) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | TCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTACAGGCATGTGCCACCACA... | TCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTACAGGCATGTGCCACCACA... |
Task1_train_19146 | Gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTAT... | TGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTAT... |
Task1_train_19147 | This variant affects gene BRCA2 (BRCA2 DNA repair associated) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | ACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGAT... | ACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGAT... |
Task1_train_19148 | This mutation is located in gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGAT... | ACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGAT... |
Task1_train_19149 | This mutation occurs in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; BRCA2-related cancer predisposition | CAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATA... | CAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATA... |
Task1_train_19150 | A mutation found in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | CACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAA... | CACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAA... |
Task1_train_19151 | This variant impacts the gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial cancer of breast | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... |
Task1_train_19152 | A mutation in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... |
Task1_train_19153 | The following genetic variant occurs in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary breast ovarian cancer syndrome | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... |
Task1_train_19154 | This sequence variant lies in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... |
Task1_train_19155 | This is a variant in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... | ACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAG... |
Task1_train_19156 | The following genetic variant occurs in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | CCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAG... | CCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAG... |
Task1_train_19157 | Consider a variant on Chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated). Determine its clinical classification and disease relevance. | Pathogenic; BRCA2-related cancer predisposition | GTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGA... | GTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGA... |
Task1_train_19158 | This is a variant in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | GAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGC... | GAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGC... |
Task1_train_19159 | Given a variant located on Chromosome 13 and affecting BRCA2 (BRCA2 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | AGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAA... | AGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAA... |
Task1_train_19160 | The following genetic variant occurs in BRCA2 (BRCA2 DNA repair associated) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | GACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAG... | GACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAG... |
Task1_train_19161 | A change on Chromosome 13 affects gene BRCA2 (BRCA2 DNA repair associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | AGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGT... | AGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGT... |
Task1_train_19162 | A mutation in BRCA2 (BRCA2 DNA repair associated), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary breast ovarian cancer syndrome | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... |
Task1_train_19163 | Gene BRCA2 (BRCA2 DNA repair associated) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | GAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAG... | GAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAG... |
Task1_train_19164 | This variant affects gene BRCA2 (BRCA2 DNA repair associated) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 2 | TAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGT... | TAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGT... |
Task1_train_19165 | Given this variant in gene NBEA (neurobeachin) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurodevelopmental disorder with or without early-onset generalized epilepsy | TGAAAGAGACTTAGCGTCATCAACTAAGGGGCTGGAGTATGCTGAAATGACTGCTACAACTCTGGAAACTGAGTCTTCTAGTAGCAAAATTGTACCAAATATTGATGCAGGAAGTATAATTTCAGATACTGAAAGGTCTGACGATGGCAAAGAATCAGGAAAAGAAATCCGAAAAATCCAAACAACTACTACGACACAAGTAAGCTACCTTATATGAGTTCTAGAAATAAATAAAAATGCATTGAAGAGTTGTTAGCACCAAAACAGAGTAATTTCTTATCAGTTACTTCATGTTTATATTGAATTATAGTATAATAGTA... | TGAAAGAGACTTAGCGTCATCAACTAAGGGGCTGGAGTATGCTGAAATGACTGCTACAACTCTGGAAACTGAGTCTTCTAGTAGCAAAATTGTACCAAATATTGATGCAGGAAGTATAATTTCAGATACTGAAAGGTCTGACGATGGCAAAGAATCAGGAAAAGAAATCCGAAAAATCCAAACAACTACTACGACACAAGTAAGCTACCTTATATGAGTTCTAGAAATAAATAAAAATGCATTGAAGAGTTGTTAGCACCAAAACAGAGTAATTTCTTATCAGTTACTTCATGTTTATATTGAATTATAGTATAATAGTA... |
Task1_train_19166 | An alteration has been detected in MAB21L1, NBEA (mab-21 like 1| neurobeachin) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cerebellar, ocular, craniofacial, and genital syndrome | GACAAATGCTCCCACAGATCCAGAACTTTATTGTTTTTAATTTAGATATTGAAATAAAATGTTATAAAATAGTATTTGTAGACTAGAGCTGAAATCCAAAAATTTACCATCACCTGAATTAACTAACTTAAGGCCCATAGGTGATCAGCCTTTTCAGCACTTGTTGACTACTAAACTCTTCCAAAGGAGAGCCATGGGACTTCTTTTACTTCTAGCTGCAAATGTAGTTTTTAAAATGAGCTTGAATGCACTGTATTTTATTTTAAAATAACTTAAATTTTGTGTTCATCCTTTTATTAGCTTGCCCTATGAAGTCAAAA... | GACAAATGCTCCCACAGATCCAGAACTTTATTGTTTTTAATTTAGATATTGAAATAAAATGTTATAAAATAGTATTTGTAGACTAGAGCTGAAATCCAAAAATTTACCATCACCTGAATTAACTAACTTAAGGCCCATAGGTGATCAGCCTTTTCAGCACTTGTTGACTACTAAACTCTTCCAAAGGAGAGCCATGGGACTTCTTTTACTTCTAGCTGCAAATGTAGTTTTTAAAATGAGCTTGAATGCACTGTATTTTATTTTAAAATAACTTAAATTTTGTGTTCATCCTTTTATTAGCTTGCCCTATGAAGTCAAAA... |
Task1_train_19167 | Gene NBEA (neurobeachin), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with or without early-onset generalized epilepsy | TCTAGTTATTTTGAAATGTACAATAAATTATTAGCCGTAGTCACCCTATTTTGCTACCAAACACTAGATTTTATTCCTTCTGCCTAACTTTATCTATCTAACTGTATTGTTCTACCCATTAACCAACACCTTCCCACCACCCTTGCCAGCCTCTGGTAACCACTATTCTGTTTATTTCCTCTGTGAGATCAATTTCTTCAGCTCCCACATATGAGTAAGAAGATGGGACAGTTGTCTTTCTGTGCCTGGCTAATTTCACTTAACCTCATGTCCTTCAGTTCCATCTATGTTGTTGCAAATGACAGGATTTCTTTTTTTTT... | TCTAGTTATTTTGAAATGTACAATAAATTATTAGCCGTAGTCACCCTATTTTGCTACCAAACACTAGATTTTATTCCTTCTGCCTAACTTTATCTATCTAACTGTATTGTTCTACCCATTAACCAACACCTTCCCACCACCCTTGCCAGCCTCTGGTAACCACTATTCTGTTTATTTCCTCTGTGAGATCAATTTCTTCAGCTCCCACATATGAGTAAGAAGATGGGACAGTTGTCTTTCTGTGCCTGGCTAATTTCACTTAACCTCATGTCCTTCAGTTCCATCTATGTTGTTGCAAATGACAGGATTTCTTTTTTTTT... |
Task1_train_19168 | This gene mutation involves NBEA (neurobeachin) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; typical paroxysmal kinesigenic dyskinesia | TCAGACACGGCCTAGGATCCCCTCCCTCTTCAAGTCCCTTTCTTTATAAGGCCAGGGGCTGTGTAGAGGTTGGTGGAAAGGAAACAAAGATTACTTGGTTCTTTGGAGGTTTTGTTTTGTTTTTGAGGCATACCTTCACTCTTGTCACGCAGGCTGGGGTGCAATGGTGCAATCCAGGCTCCCTGCAACTTCCGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCGCCCGCAACCAAGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGG... | TCAGACACGGCCTAGGATCCCCTCCCTCTTCAAGTCCCTTTCTTTATAAGGCCAGGGGCTGTGTAGAGGTTGGTGGAAAGGAAACAAAGATTACTTGGTTCTTTGGAGGTTTTGTTTTGTTTTTGAGGCATACCTTCACTCTTGTCACGCAGGCTGGGGTGCAATGGTGCAATCCAGGCTCCCTGCAACTTCCGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCGCCCGCAACCAAGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGG... |
Task1_train_19169 | Given this context: Chromosome 13, gene SMAD9 (SMAD family member 9) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pulmonary hypertension, primary, 2 | AACATTTTTCCATTTGGATATATTTTGGATGCTTAATGTAATTCAAATCTTTGAAACACAAAATGGAATCCAGTCATTTTTGTTATAAGCTTAGACATTATTGACTTTTTTTTTTAAGTAAGCGAAAAGAGTCAAAATGAACCAGGGAAGAAGGGTGGAAAGCAACTCGCTCCAGGATTTAGGGGAAACGCATCAGATTTGCCAAGCATGTGGAACCTTCTAATACCTTCTCAGCCAGGGCCTCAGTCCCTGAATGGGCTGTGGGAGGCATCCACACACAGGTAGATGTTAAGTTCTGGGAGCTTGAAGGATCACTTAGC... | AACATTTTTCCATTTGGATATATTTTGGATGCTTAATGTAATTCAAATCTTTGAAACACAAAATGGAATCCAGTCATTTTTGTTATAAGCTTAGACATTATTGACTTTTTTTTTTAAGTAAGCGAAAAGAGTCAAAATGAACCAGGGAAGAAGGGTGGAAAGCAACTCGCTCCAGGATTTAGGGGAAACGCATCAGATTTGCCAAGCATGTGGAACCTTCTAATACCTTCTCAGCCAGGGCCTCAGTCCCTGAATGGGCTGTGGGAGGCATCCACACACAGGTAGATGTTAAGTTCTGGGAGCTTGAAGGATCACTTAGC... |
Task1_train_19170 | A change on Chromosome 13 affects gene ALG5 (ALG5 dolichyl-phosphate beta-glucosyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Polycystic kidney disease 7 | AATGTTTTAATCTAGAAAAACAAGATTTTAAAAAGTCTGAATGATAATTCTGAAAATACATTTTTTAAAGTAGTATTTTGGGGGTTATATGGCATATATTTCTAGGAAGACAACAGGTCTTTGAAAACAGATGCACAAAAATTGTAGAGAGTATAAAAATGGACATATACTGGCATAATCATGCAGATACCCAACATGAACAGGATTCACACAGAACCCATGACTAAGTATTAGTTCTTTCAACAGTATTTACTGGGTACCTACTATGTGCTGGGCATGATATTAGATAGTGGGATATACTAATAAGTAAAATTAAATGT... | AATGTTTTAATCTAGAAAAACAAGATTTTAAAAAGTCTGAATGATAATTCTGAAAATACATTTTTTAAAGTAGTATTTTGGGGGTTATATGGCATATATTTCTAGGAAGACAACAGGTCTTTGAAAACAGATGCACAAAAATTGTAGAGAGTATAAAAATGGACATATACTGGCATAATCATGCAGATACCCAACATGAACAGGATTCACACAGAACCCATGACTAAGTATTAGTTCTTTCAACAGTATTTACTGGGTACCTACTATGTGCTGGGCATGATATTAGATAGTGGGATATACTAATAAGTAAAATTAAATGT... |
Task1_train_19171 | An alteration has been detected in ALG5 (ALG5 dolichyl-phosphate beta-glucosyltransferase) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Polycystic kidney disease 7 | TAGAAAAACAAGATTTTAAAAAGTCTGAATGATAATTCTGAAAATACATTTTTTAAAGTAGTATTTTGGGGGTTATATGGCATATATTTCTAGGAAGACAACAGGTCTTTGAAAACAGATGCACAAAAATTGTAGAGAGTATAAAAATGGACATATACTGGCATAATCATGCAGATACCCAACATGAACAGGATTCACACAGAACCCATGACTAAGTATTAGTTCTTTCAACAGTATTTACTGGGTACCTACTATGTGCTGGGCATGATATTAGATAGTGGGATATACTAATAAGTAAAATTAAATGTGACTCTTGCTCT... | TAGAAAAACAAGATTTTAAAAAGTCTGAATGATAATTCTGAAAATACATTTTTTAAAGTAGTATTTTGGGGGTTATATGGCATATATTTCTAGGAAGACAACAGGTCTTTGAAAACAGATGCACAAAAATTGTAGAGAGTATAAAAATGGACATATACTGGCATAATCATGCAGATACCCAACATGAACAGGATTCACACAGAACCCATGACTAAGTATTAGTTCTTTCAACAGTATTTACTGGGTACCTACTATGTGCTGGGCATGATATTAGATAGTGGGATATACTAATAAGTAAAATTAAATGTGACTCTTGCTCT... |
Task1_train_19172 | This mutation is located in gene EXOSC8 (exosome component 8) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pontocerebellar hypoplasia, type 1C | GCCGTCAAGGCTCCGTCACCCCTATTTGCTTAACCACATCAGCCAAGGGAGCAGGCTAGGGAGCACACCCCTTCTGGGGGCTCGAGACCTCCCTGGGTGGAGCAGAACTGCAGCGGCTGCAGGTCCCGGAGAGTCTGGGAGAGGTCGAGGTTGACAGAGGAGGTGGGTAGGGGGCGCGGGCGCCAGGGGCGATGGAAGCGGCGATGATGCCAGGCCGGGTGGGTGCGCTCCAGTGTGAAAAAACTTACAAGTCTCTGAGCACACAAAGAGATAAGATTCCAAGGGAAAATTAAAGAACCGAAGAAAAGGAGAGTGAAACT... | GCCGTCAAGGCTCCGTCACCCCTATTTGCTTAACCACATCAGCCAAGGGAGCAGGCTAGGGAGCACACCCCTTCTGGGGGCTCGAGACCTCCCTGGGTGGAGCAGAACTGCAGCGGCTGCAGGTCCCGGAGAGTCTGGGAGAGGTCGAGGTTGACAGAGGAGGTGGGTAGGGGGCGCGGGCGCCAGGGGCGATGGAAGCGGCGATGATGCCAGGCCGGGTGGGTGCGCTCCAGTGTGAAAAAACTTACAAGTCTCTGAGCACACAAAGAGATAAGATTCCAAGGGAAAATTAAAGAACCGAAGAAAAGGAGAGTGAAACT... |
Task1_train_19173 | This variant lies on Chromosome 13 and affects the gene UFM1 (ubiquitin fold modifier 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTGCCCAAGTGCAGTTTGGACAGGAGATGGGCTTAATGTGCGTGATGTAACTTAGATAAGGTAGAATTTCTCACTCTAAAATATTCTGCATTCTGTCACATTGAAGTGTTTCTCTGTTGGAAAAAAGCTGGCTTACTACCTGGAAAGTTTTAGGTCATAACTTAGTAACGTGTTGAACTAAATGACTTTGTGAGCTCTCCCAGCCTTAAGATATTATGACCTAGAACAATACGAAGATGATTCATGGCATACCTAAGGGGCTTTTTAGTTTTTTGGAAGAAAGGACAAACATTATTTTTAATTCTATATGGCAAAATAGA... | TTGCCCAAGTGCAGTTTGGACAGGAGATGGGCTTAATGTGCGTGATGTAACTTAGATAAGGTAGAATTTCTCACTCTAAAATATTCTGCATTCTGTCACATTGAAGTGTTTCTCTGTTGGAAAAAAGCTGGCTTACTACCTGGAAAGTTTTAGGTCATAACTTAGTAACGTGTTGAACTAAATGACTTTGTGAGCTCTCCCAGCCTTAAGATATTATGACCTAGAACAATACGAAGATGATTCATGGCATACCTAAGGGGCTTTTTAGTTTTTTGGAAGAAAGGACAAACATTATTTTTAATTCTATATGGCAAAATAGA... |
Task1_train_19174 | A mutation found in COG6 (component of oligomeric golgi complex 6) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; COG6-related disorder | ATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGGTCTTTAACTCCTGAACTCGAGA... | ATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGGTCTTTAACTCCTGAACTCGAGA... |
Task1_train_19175 | This variant lies on Chromosome 13 and affects the gene COG6 (component of oligomeric golgi complex 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; COG6-congenital disorder of glycosylation | ATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGGTCTTTAACTCCTGAACTCGAGA... | ATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGGTCTTTAACTCCTGAACTCGAGA... |
Task1_train_19176 | A genetic alteration is present in COG6 (component of oligomeric golgi complex 6) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | ATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGGTCTTTAACTCCTGAACTCGAGA... | ATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGGTCTTTAACTCCTGAACTCGAGA... |
Task1_train_19177 | Here is a mutation in COG6 (component of oligomeric golgi complex 6) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ATTTTGATTTAGTAATCAAAAATATTTTAAAAAAGAAAAACAAACTTCACATTTGAGCACACTGTTTTTTGTGTTTGTATCATGAGCACCAGCTATCAGCCAAGCAGTATGCTTGATTAAGTGTGAGAATAAAACAATGAAGACAGTTTCTGCCCTAGATTATTTTAAAGCAGATTAGGTATCTCTTGTTGTTTACATAACTGTAAAGTTGTAAGTGGTAAACTGATTTTCTGCTGTTGCTGTAACAAATTATTACAAACTGAGTGGCTTAAAACAACACATATTTGTTGCCTTACACTTCTGTAGGTCAGAAATCAGAT... | ATTTTGATTTAGTAATCAAAAATATTTTAAAAAAGAAAAACAAACTTCACATTTGAGCACACTGTTTTTTGTGTTTGTATCATGAGCACCAGCTATCAGCCAAGCAGTATGCTTGATTAAGTGTGAGAATAAAACAATGAAGACAGTTTCTGCCCTAGATTATTTTAAAGCAGATTAGGTATCTCTTGTTGTTTACATAACTGTAAAGTTGTAAGTGGTAAACTGATTTTCTGCTGTTGCTGTAACAAATTATTACAAACTGAGTGGCTTAAAACAACACATATTTGTTGCCTTACACTTCTGTAGGTCAGAAATCAGAT... |
Task1_train_19178 | This sequence variant lies in COG6 (component of oligomeric golgi complex 6) on Chromosome 13. Is it clinically significant, and what condition might it cause if any? | Pathogenic; COG6-congenital disorder of glycosylation | CTTTTACATGTGTTTTAACATTCTCCAGAAATCTCTTGAGCCAGATCTTTATTAGTCCTGGCAGCATTTTCAGTAATTGTTCTGTCAGCAGATAATTCAGGTTCCCCTTTCTCCAGACTCCAGTAGCAATTTTCCCAGTGCCCTTTCAGACCCCACTGGCAGTCCCTTGAGTGGGTATTCCAAGTGGACAAATCCCAGTGTGGAAGTGCTTATTGGCCTATTCTTGCATTATGCTTGTCAGAGTGCTGTCAGCCAAGACTGGCCACATAGAACAGCCTGGATTCGGTGTGATAGAGGACAATACAAAGGTGTGGATATGT... | CTTTTACATGTGTTTTAACATTCTCCAGAAATCTCTTGAGCCAGATCTTTATTAGTCCTGGCAGCATTTTCAGTAATTGTTCTGTCAGCAGATAATTCAGGTTCCCCTTTCTCCAGACTCCAGTAGCAATTTTCCCAGTGCCCTTTCAGACCCCACTGGCAGTCCCTTGAGTGGGTATTCCAAGTGGACAAATCCCAGTGTGGAAGTGCTTATTGGCCTATTCTTGCATTATGCTTGTCAGAGTGCTGTCAGCCAAGACTGGCCACATAGAACAGCCTGGATTCGGTGTGATAGAGGACAATACAAAGGTGTGGATATGT... |
Task1_train_19179 | This mutation is located in gene FOXO1 (forkhead box O1) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Malignant lymphoma, large B-cell, diffuse | TAAGAAGGCACTTTACTTTTTTGAAACACTTGGTAAAATTGCATGTAATGCCTGGTAATGAAGCGATAAGTGATACCTTTACTCTAAAACACACTTTGGAAAAAATAAAATGAATCTTGAATTCCTTCTAAAGGAACTTCAATAAGGTGTGAGTAACTTAACCCTTTTGACACGCATTAACCACAGGGATGACACTGTGTGTAAAATAACCTTGGTGTTAACAACTGCGCAGCAAAGACCAATCTTTATTATGCCGTGGAGTCCAATATGAGAGGCGAAGAAAGGTATGTTTTAAAAAGGTGTTTAGCTCGGCCGGGAAC... | TAAGAAGGCACTTTACTTTTTTGAAACACTTGGTAAAATTGCATGTAATGCCTGGTAATGAAGCGATAAGTGATACCTTTACTCTAAAACACACTTTGGAAAAAATAAAATGAATCTTGAATTCCTTCTAAAGGAACTTCAATAAGGTGTGAGTAACTTAACCCTTTTGACACGCATTAACCACAGGGATGACACTGTGTGTAAAATAACCTTGGTGTTAACAACTGCGCAGCAAAGACCAATCTTTATTATGCCGTGGAGTCCAATATGAGAGGCGAAGAAAGGTATGTTTTAAAAAGGTGTTTAGCTCGGCCGGGAAC... |
Task1_train_19180 | Given this context: Chromosome 13, gene SLC25A15 (solute carrier family 25 member 15) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | CTTGATCGATCTTTGAGAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTT... | CTTGATCGATCTTTGAGAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTT... |
Task1_train_19181 | A mutation on Chromosome 13 affecting SLC25A15 (solute carrier family 25 member 15) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | GAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCA... | GAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCA... |
Task1_train_19182 | A variant found in Chromosome 13 affects SLC25A15 (solute carrier family 25 member 15). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | CAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAA... | CAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAA... |
Task1_train_19183 | A change on Chromosome 13 affects gene SLC25A15 (solute carrier family 25 member 15). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | AGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAATTACGCACCCACTTAAAACATTCTGTCACCTTTTCTCTTGGAATAATTAAATTATTTTAATGTAATTCAGATTTCTTTTTATCCTAGCCCAGCATTACCTGG... | AGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAATTACGCACCCACTTAAAACATTCTGTCACCTTTTCTCTTGGAATAATTAAATTATTTTAATGTAATTCAGATTTCTTTTTATCCTAGCCCAGCATTACCTGG... |
Task1_train_19184 | A variant was discovered on Chromosome 13, affecting SLC25A15 (solute carrier family 25 member 15). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | CTAAAGTGGCAGATGTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTC... | CTAAAGTGGCAGATGTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTC... |
Task1_train_19185 | Consider this mutation in SLC25A15 (solute carrier family 25 member 15) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | TTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTCAGGTTTCGTATGGGTATTCAGGCTGA... | TTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTCAGGTTTCGTATGGGTATTCAGGCTGA... |
Task1_train_19186 | Gene SLC25A15 (solute carrier family 25 member 15) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | TCTGCCCTTTGTGCTCTCCTCCCCACATTGGTGGCTCCATCTGGCACAGGGAAGCTTCTGGATGCCTGAAGGTAACATGGTGGCAGGCAGTTGATAGCACCCACCCTCCAGGCCTGATAATTTCCTTAGGACAGGGCCTGAAGCAGTACATCCCAAACTTTCTTACTGGAATAAAGTTTTTTAATTTTTCTGGATCTATTTTAGGGGAGAAGAAATCCAGAAATTACTTTCCCAATTGGGGAATCACCTATAAATAATCTTGAAATAAGGTTAAAACTTGGAAATCTTAATAGTGTTTTGAGAGCAGTGAAAACCATAGT... | TCTGCCCTTTGTGCTCTCCTCCCCACATTGGTGGCTCCATCTGGCACAGGGAAGCTTCTGGATGCCTGAAGGTAACATGGTGGCAGGCAGTTGATAGCACCCACCCTCCAGGCCTGATAATTTCCTTAGGACAGGGCCTGAAGCAGTACATCCCAAACTTTCTTACTGGAATAAAGTTTTTTAATTTTTCTGGATCTATTTTAGGGGAGAAGAAATCCAGAAATTACTTTCCCAATTGGGGAATCACCTATAAATAATCTTGAAATAAGGTTAAAACTTGGAAATCTTAATAGTGTTTTGAGAGCAGTGAAAACCATAGT... |
Task1_train_19187 | Given this variant in gene VWA8, VWA8 (von Willebrand factor A domain containing 8| von Willebrand factor A domain containing 8) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinitis pigmentosa 97 | AGAAATTGCTACACTTTGTCATCCTACTCTCTCTAAGTACAAGGCTGATAATTTGATAGAAATTGCTACGGAACCTGTGAATTTCAAGAAGGGCAATAAAACAACACTACTTTTGAGCAGCCTAAGTTATTGCAATTAACAGATGAGGAAAAAATTGCTCTGAATGACTGTGGAAATTATAGCCTACTCTGATCTCCTTCTAAAAGGAAAATTCACTCTTCCTTCACATCTGCTTAAGTCTATTTCTAGCTATATGCGGTTGGGGGACAACTAGTTGTTTCTATCCCCTTGTAATGCAAGAGTGTGACCAACTTGTTTCC... | AGAAATTGCTACACTTTGTCATCCTACTCTCTCTAAGTACAAGGCTGATAATTTGATAGAAATTGCTACGGAACCTGTGAATTTCAAGAAGGGCAATAAAACAACACTACTTTTGAGCAGCCTAAGTTATTGCAATTAACAGATGAGGAAAAAATTGCTCTGAATGACTGTGGAAATTATAGCCTACTCTGATCTCCTTCTAAAAGGAAAATTCACTCTTCCTTCACATCTGCTTAAGTCTATTTCTAGCTATATGCGGTTGGGGGACAACTAGTTGTTTCTATCCCCTTGTAATGCAAGAGTGTGACCAACTTGTTTCC... |
Task1_train_19188 | This genomic variant is located on Chromosome 13, within the TNFSF11 (TNF superfamily member 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive osteopetrosis 2 | AATTCTTGGTCTTCTCATGATGGGTTGCCCCACCGTTGGATGGCCCTTGCTGCAGTTTTTCTCCCAAGTGGTTGAAAGAACTGCCTGTTTGGTTCCTACAGCCTAGTTTTGAGGCTCCCAGATCATATCCCAGGCTCCCAGTTCTTTAGAGATAAAATTGTAGAACATTCTCTATCTTGTGGGCCTCTAGAGAAGGATGTAGATGTTCAAGGCCCACCAAACCAGACTAGGCTGGGAAGGTAACTAGTGTGTGTTTCCTTTTTTTTGTTTGTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCT... | AATTCTTGGTCTTCTCATGATGGGTTGCCCCACCGTTGGATGGCCCTTGCTGCAGTTTTTCTCCCAAGTGGTTGAAAGAACTGCCTGTTTGGTTCCTACAGCCTAGTTTTGAGGCTCCCAGATCATATCCCAGGCTCCCAGTTCTTTAGAGATAAAATTGTAGAACATTCTCTATCTTGTGGGCCTCTAGAGAAGGATGTAGATGTTCAAGGCCCACCAAACCAGACTAGGCTGGGAAGGTAACTAGTGTGTGTTTCCTTTTTTTTGTTTGTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCT... |
Task1_train_19189 | A genetic alteration is present in LACC1 (laccase domain containing 1) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Juvenile arthritis due to defect in LACC1 | ACACTAAAACATCTCGAGGGGGCCCCTGACTTGAGCCCTGCATGGGAAAAGCTGCCAAGAGCTAGCATGACAAGGGACTGGCCCTGGGCTGCGGTGAGGAAACCCAGCGTCCTGACCACACTGCTGGGTCAGCGAGGCGTCCCTCAGAGACCGGAAACGCGGACTTCAGCTCGCTTGGGAAACGGCTTCCATTAGCAGAAGGGAGACTGCGGTTTAGTCCCGAGGTCGCTCCAGCAGCCCGGCCTCACGCGACCCACCATTCCCGCCGCCCCCTCACGGTGCCCGCCGTTCCCGCCGCCCGGCTTTCTAACCGGGCCCCT... | ACACTAAAACATCTCGAGGGGGCCCCTGACTTGAGCCCTGCATGGGAAAAGCTGCCAAGAGCTAGCATGACAAGGGACTGGCCCTGGGCTGCGGTGAGGAAACCCAGCGTCCTGACCACACTGCTGGGTCAGCGAGGCGTCCCTCAGAGACCGGAAACGCGGACTTCAGCTCGCTTGGGAAACGGCTTCCATTAGCAGAAGGGAGACTGCGGTTTAGTCCCGAGGTCGCTCCAGCAGCCCGGCCTCACGCGACCCACCATTCCCGCCGCCCCCTCACGGTGCCCGCCGTTCCCGCCGCCCGGCTTTCTAACCGGGCCCCT... |
Task1_train_19190 | A change on Chromosome 13 affects gene SUCLA2 (succinate-CoA ligase ADP-forming subunit beta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | GATAATGAGTATTCCTCACAATTCCTACATTCCTTGCAGTTGTTCAGTTTGAAATATTTTCTCATTTCCATTATTATTTCTTCATTAATTCAGAAATTATTTTCAAGTATTTTCTTTAAATAAAAAAAAAAAAATAGGCTGGGTGTGATGGCTCACACCTTTAATCCCAGCACTTCAGGAGCTGAGGTAAGAGGATGGCTTGAGTACATGCGTTGGATGAGCCTAGGCAACATATTGAGGGCCCGTCTCTACAAAAAATTTTAAAAAGAATTAGCCAGGCATGGTGGTGGCATGGGCCTGTAGTCCCAGCTACTCAAGAG... | GATAATGAGTATTCCTCACAATTCCTACATTCCTTGCAGTTGTTCAGTTTGAAATATTTTCTCATTTCCATTATTATTTCTTCATTAATTCAGAAATTATTTTCAAGTATTTTCTTTAAATAAAAAAAAAAAAATAGGCTGGGTGTGATGGCTCACACCTTTAATCCCAGCACTTCAGGAGCTGAGGTAAGAGGATGGCTTGAGTACATGCGTTGGATGAGCCTAGGCAACATATTGAGGGCCCGTCTCTACAAAAAATTTTAAAAAGAATTAGCCAGGCATGGTGGTGGCATGGGCCTGTAGTCCCAGCTACTCAAGAG... |
Task1_train_19191 | A genomic change on Chromosome 13 affects SUCLA2 (succinate-CoA ligase ADP-forming subunit beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | TGCATGGGACATTAACTCAATCACAAGTGCTCTTTGTAGTTTAAATAGGTGACTAATTTTTGTTGTTCAACAGAGATCTGTCCACAGGGATTCCCAAAAACATGGCTATACCCCAAAAAGTAACACCAACCAACTCTACATTGGTCTAATGTGATAATATCAAAGAATTTATAATGTCTTCGGTCAAACAGTTTTACTGGTACTACAGTATTTTTAACCTGAATTATAACCACGTATTATTAGTAAGCAAGTATTAAAATAAAAACATTTTATCCTCAACAAGACCTAAATAGTTGTCAGGAAATTCAAGTTCATAAGAT... | TGCATGGGACATTAACTCAATCACAAGTGCTCTTTGTAGTTTAAATAGGTGACTAATTTTTGTTGTTCAACAGAGATCTGTCCACAGGGATTCCCAAAAACATGGCTATACCCCAAAAAGTAACACCAACCAACTCTACATTGGTCTAATGTGATAATATCAAAGAATTTATAATGTCTTCGGTCAAACAGTTTTACTGGTACTACAGTATTTTTAACCTGAATTATAACCACGTATTATTAGTAAGCAAGTATTAAAATAAAAACATTTTATCCTCAACAAGACCTAAATAGTTGTCAGGAAATTCAAGTTCATAAGAT... |
Task1_train_19192 | With a mutation on Chromosome 13 in gene ITM2B (integral membrane protein 2B), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | ATGTCATTGCCTTGAGATGATGGTACCTCATTTTCCATCTAGTTAGTCACCCTGTCCAACTTCCCATCCTACCACTTTGGTTGAGCCATACTGAAAGGGTTTTTATTATCCAGAGGGTGTCTTGGGACCAGCTCTTCAGCTGTGTTTTCAGGGATCTGGATTCTAAGCAGGCTGTTTGCCTTTTGGATCATATTGGGAATAATCACTGTCAGGGTAGTTGGAAAGGAATTTGGGTGAAGAACTAAGAGCATTGATACAACTAATGTTGTAGCTTTGCCAAATCATTTAACTTTTATTTTCTCACCTGAAATATAAGAATT... | ATGTCATTGCCTTGAGATGATGGTACCTCATTTTCCATCTAGTTAGTCACCCTGTCCAACTTCCCATCCTACCACTTTGGTTGAGCCATACTGAAAGGGTTTTTATTATCCAGAGGGTGTCTTGGGACCAGCTCTTCAGCTGTGTTTTCAGGGATCTGGATTCTAAGCAGGCTGTTTGCCTTTTGGATCATATTGGGAATAATCACTGTCAGGGTAGTTGGAAAGGAATTTGGGTGAAGAACTAAGAGCATTGATACAACTAATGTTGTAGCTTTGCCAAATCATTTAACTTTTATTTTCTCACCTGAAATATAAGAATT... |
Task1_train_19193 | Given a variant located on Chromosome 13 and affecting RB1 (RB transcriptional corepressor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinoblastoma | TAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAGTGCTTGCCAAACCTTTACACATCCTCACATATGTCATAATATGCAGATAAAAAGATAATCCCTTATACAACTTGCTGGGA... | TAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAGTGCTTGCCAAACCTTTACACATCCTCACATATGTCATAATATGCAGATAAAAAGATAATCCCTTATACAACTTGCTGGGA... |
Task1_train_19194 | A variant has been detected on Chromosome 13 in RB1 (RB transcriptional corepressor 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary cancer-predisposing syndrome | TAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAGTGCTTGCCAAACCTTTACACATCCTCACATATGTCATAATATGCAGATAAAAAGATAATCCCTTATACAACTTGCTGGGA... | TAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAGTGCTTGCCAAACCTTTACACATCCTCACATATGTCATAATATGCAGATAAAAAGATAATCCCTTATACAACTTGCTGGGA... |
Task1_train_19195 | This mutation is located in gene RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTCTATGTTTACATAATCACTGTGCTTTTCCCCCTCGTATTGCTGGGACTGTATATGTGTAACCCT... | CCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTCTATGTTTACATAATCACTGTGCTTTTCCCCCTCGTATTGCTGGGACTGTATATGTGTAACCCT... |
Task1_train_19196 | Chromosome 13 houses a mutation in gene RB1 (RB transcriptional corepressor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinoblastoma | TGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTATATAGAAAACAAATATACTTCAAATTTTCTCCCAAATTTTATAAATTTCCTTTATATACCCTTTCCCCACTTTTTTCAATGTTATAACTTTAATAAGTTGATGTTGCAAGTTACTTTAGGTTGACAATCT... | TGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTATATAGAAAACAAATATACTTCAAATTTTCTCCCAAATTTTATAAATTTCCTTTATATACCCTTTCCCCACTTTTTTCAATGTTATAACTTTAATAAGTTGATGTTGCAAGTTACTTTAGGTTGACAATCT... |
Task1_train_19197 | A mutation found in RB1 (RB transcriptional corepressor 1) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinoblastoma | TAATTTGTTTAGGATAATGACCTCCAGCTACATCCATGTGGCTGCAAAGGGCATAATTTCATTCTTTTTTTATGACTGTATAGTACTCCATAGTGTATAAGTACCACATTTTCTTTATCCAATCCACCACTGAAGGGCACCTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGCATACCAGTGAACATATGAGTGCATGTGAAAGACATTTTCTAGAGCTCAATTTAAAGCTTAACTTTTAATGAAGCTTAAAAGCTTAATTATGTAGATGATAAGTTGCATATGTCAAAGTGAACATGTCTTGAAGGTCATTATGTT... | TAATTTGTTTAGGATAATGACCTCCAGCTACATCCATGTGGCTGCAAAGGGCATAATTTCATTCTTTTTTTATGACTGTATAGTACTCCATAGTGTATAAGTACCACATTTTCTTTATCCAATCCACCACTGAAGGGCACCTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGCATACCAGTGAACATATGAGTGCATGTGAAAGACATTTTCTAGAGCTCAATTTAAAGCTTAACTTTTAATGAAGCTTAAAAGCTTAATTATGTAGATGATAAGTTGCATATGTCAAAGTGAACATGTCTTGAAGGTCATTATGTT... |
Task1_train_19198 | This mutation occurs in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CTCTGCTTTGTTGTGTGGCATTAATGAGGATAATATACAAAAATATATTGGAAAACTGGAGTCCACTGTACACATTTATTTCAGTGTAGTGAGGTTATATTTTGATGCCATCAGTGTTTTAAACATTGATATTTAATGGTTCTTTTTGATTCTACAGCCATGCACCACTTAACAGGGATATGTTCTGACAAATGCATCATTAGGCAATTTTGTTGTGTGAACCTGGTAGAGTGTGTCTGTACAAACCTAGATGGTATAGCCGATTGTACATCTAAGCTGTATGATATAGCCTATTCATTCCTAGGCTACAGGCCTCTACA... | CTCTGCTTTGTTGTGTGGCATTAATGAGGATAATATACAAAAATATATTGGAAAACTGGAGTCCACTGTACACATTTATTTCAGTGTAGTGAGGTTATATTTTGATGCCATCAGTGTTTTAAACATTGATATTTAATGGTTCTTTTTGATTCTACAGCCATGCACCACTTAACAGGGATATGTTCTGACAAATGCATCATTAGGCAATTTTGTTGTGTGAACCTGGTAGAGTGTGTCTGTACAAACCTAGATGGTATAGCCGATTGTACATCTAAGCTGTATGATATAGCCTATTCATTCCTAGGCTACAGGCCTCTACA... |
Task1_train_19199 | This mutation is located in gene RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinoblastoma | CTCTGCTTTGTTGTGTGGCATTAATGAGGATAATATACAAAAATATATTGGAAAACTGGAGTCCACTGTACACATTTATTTCAGTGTAGTGAGGTTATATTTTGATGCCATCAGTGTTTTAAACATTGATATTTAATGGTTCTTTTTGATTCTACAGCCATGCACCACTTAACAGGGATATGTTCTGACAAATGCATCATTAGGCAATTTTGTTGTGTGAACCTGGTAGAGTGTGTCTGTACAAACCTAGATGGTATAGCCGATTGTACATCTAAGCTGTATGATATAGCCTATTCATTCCTAGGCTACAGGCCTCTACA... | CTCTGCTTTGTTGTGTGGCATTAATGAGGATAATATACAAAAATATATTGGAAAACTGGAGTCCACTGTACACATTTATTTCAGTGTAGTGAGGTTATATTTTGATGCCATCAGTGTTTTAAACATTGATATTTAATGGTTCTTTTTGATTCTACAGCCATGCACCACTTAACAGGGATATGTTCTGACAAATGCATCATTAGGCAATTTTGTTGTGTGAACCTGGTAGAGTGTGTCTGTACAAACCTAGATGGTATAGCCGATTGTACATCTAAGCTGTATGATATAGCCTATTCATTCCTAGGCTACAGGCCTCTACA... |
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